المؤلفون: Erica E. Davis, Omar Shanta, Curtis K. Deutsch, Yann Herault, Jonathan Sebat, Shawn Cho, Claire Chevalier, Christina Corsello, Nicholas Katsanis, Sandra Martin Lorenzo, Pang Timothy, Ellen Richardson, Yuqi Qiu, Hongying Li, Oanh Hong, Lilia M. Iakoucheva, Karen Messer, Shih C. Tang, Thomas Arbogast

المساهمون: Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé (CREATIS), Université Jean Monnet [Saint-Étienne] (UJM)-Hospices Civils de Lyon (HCL)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Autism and Communicative Disorders Centre, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, School of Oceanography [Seattle], University of Washington [Seattle], Center for Human Disease Modeling, Duke University [Durham]

المصدر: Cell Reports
Cell Reports, Elsevier Inc, 2019, 28 (13), pp.3320-3328.e4. ⟨10.1016/j.celrep.2019.08.071⟩
Cell Reports, Vol 28, Iss 13, Pp 3320-3328.e4 (2019)
Cell reports
Cell reports, vol 28, iss 13

مصطلحات موضوعية: 0301 basic medicine, Head size, Male, [SDV]Life Sciences [q-bio], ved/biology.organism_classification_rank.species, Medical Physiology, Chromosome Disorders, Craniofacial Abnormalities, 0302 clinical medicine, Gene duplication, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, Zebrafish, lcsh:QH301-705.5, ComputingMilieux_MISCELLANEOUS, Genetics, Pediatric, biology, Phenotype, Mental Health, Female, Chromosome Deletion, Human, Biotechnology, DNA Copy Number Variations, General Biochemistry, Genetics and Molecular Biology, Chromosomes, Article, 03 medical and health sciences, Clinical Research, Intellectual Disability, Humans, Craniofacial, Dental/Oral and Craniofacial Disease, Autistic Disorder, Model organism, Gene, [SDV.GEN]Life Sciences [q-bio]/Genetics, ved/biology, Pair 16, Human Genome, biology.organism_classification, Brain Disorders, 030104 developmental biology, lcsh:Biology (General), Congenital Structural Anomalies, Biochemistry and Cell Biology, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86d9aa1660e8e41cded8ad00a1e3f8fTest
https://hal.archives-ouvertes.fr/hal-02388586Test

المؤلفون: Alonso, Cárdenas-de-la-Parra, Sandra, Martin-Brevet, Clara, Moreau, Borja, Rodriguez-Herreros, Vladimir, S Fonov, Anne, M Maillard, Nicole, R Zürcher, 2 European Consortium, 16p11., Nouchine Hadjikhani 48, Jacques, S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1, Marie-Claude Addor, 7, Joris Andrieux, 8, Benoît Arveiler, 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco, Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Brusco, Alfredo, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca, Forzano, David Genevieve 29, Marion Gérard 30, Giachino, Daniela Francesca, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe, 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Rossi, Massimiliano, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem

المساهمون: Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), McConnell Brain Imaging Centre (MNI), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Ecophysiologie Végétale, Agronomie et Nutritions (EVA), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Recherche Agronomique (INRA), Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Human Genetics, Université de Lausanne (UNIL), Service de génétique médicale, Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, EHESP-Irset (EHESP-Irset), École des Hautes Études en Santé Publique [EHESP] (EHESP), CHU Pontchaillou [Rennes], National Institute of Child Health and Human Development, National Institute on Drug Abuse, 3388, MIRI Brain Canada, 201803PJT 400528 BSB, IVADO fund: a Canadian Institute of Health Research, Fonds de Recherche Nature et technologies du Québec, Roger De Spoelberch, Partridge Foundations, National Institute of Mental Health, N01-MH9-0002, National Institute of Neurological Disorders and Stroke, 33CS30-148401, National Science Foundation, MOP-111169, Canadian Institutes of Health Research, 31003A_160203, Schweizerischer Nationalfonds zur Fö, rderung der Wissenschaftlichen Forschung, Horizon 2020, Fondation Leenaards, McGill University-McGill University

المصدر: NeuroImage
NeuroImage, Elsevier, 2019, 203, pp.116155. ⟨10.1016/j.neuroimage.2019.116155⟩
Cárdenas-de-la-Parra, A, Martin-Brevet, S, Moreau, C, Rodriguez-Herreros, B, Fonov, V S, Maillard, A M, Zürcher, N R, Marie-Claude, A, Joris, A, Benoît, A, Geneviève, B, Frédérique, S B, Marco, B, Dominique, B, Sonia, B, Odile, B, Alfredo, B, Tiffany, B, Jean-Hubert, C, Dominique, C, Vanessa, C, Marie-Pierre, C, Albert, D, François-Guillaume, D, Marie-Ange, D, Martine, D F, Dunkhase Heinl, U, Patrick, E, Fagerberg, C, Laurence, F, Francesca, F, David, G, Marion, G, Daniela, G, Agnès, G, Olivier, G, Delphine, H, Bertrand, I, Aurélia, J, Sylvie, J, Hubert, J, Boris, K, Didier, L, Sébastien, L, Cédric, L C, Marie-Pierre, L, James, L, Michèle, M D, Sandra, M, Cyril, M, Sørensen, K P, Kristiansen, B S & 16p11.2 European Consortium 2019, ' Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations ', NeuroImage, vol. 203, 116155 . https://doi.org/10.1016/j.neuroimage.2019.116155Test

مصطلحات موضوعية: Adult, Adolescent, DNA Copy Number Variations, Cognitive Neuroscience, Biology, computer.software_genre, 050105 experimental psychology, Imaging, White matter, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Voxel, Chromosome Duplication, Gene duplication, medicine, Genetics, Humans, 0501 psychology and cognitive sciences, Copy-number variation, Child, ComputingMilieux_MISCELLANEOUS, 16p11.2 Copy number variants, Brain development, Neurodevelopmental disorders, Normative growth trajectories, [SCCO.NEUR]Cognitive science/Neuroscience, 05 social sciences, Brain, medicine.anatomical_structure, Neurology, Evolutionary biology, Child, Preschool, Endophenotype, Human genome, Chromosome Deletion, Insula, computer, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f87712d699d3cb30d4c21f4253668c8Test
https://hal.archives-ouvertes.fr/hal-02441775Test

المؤلفون: Winkelmann, Juliane, Czamara, Darina, Schormair, Barbara, Knauf, Franziska, Schulte, Eva, C., Trenkwalder, Claudia, Dauvilliers, Yves, Polo, Olli, Högl, Birgit, Berger, Klaus, Fuhs, Andrea, Gross, Nadine, Stiasny-Kolster, Karin, Oertel, Wolfgang, Bachmann, Cornelius, G., Paulus, Walter, Xiong, Lan, Montplaisir, Jacques, Rouleau, Guy, A., Fietze, Ingo, Vávrová, Jana, Kemlink, David, Sonka, Karel, Nevsimalova, Sona, Lin, Siong-Chi, Wszolek, Zbigniew, Vilariño-Güell, Carles, Farrer, Matthew, J., Gschliesser, Viola, Frauscher, Birgit, Falkenstetter, Tina, Poewe, Werner, Allen, Richard, P., Earley, Christopher, J., Ondo, William, G., Le, Wei-Dong, Spieler, Derek, Kaffe, Maria, Zimprich, Alexander, Kettunen, Johannes, Perola, Markus, Silander, Kaisa, Cournu-Rebeix, Isabelle, Francavilla, Marcella, Fontenille, Claire, Fontaine, Bertrand, Vodicka, Pavel, Prokisch, Holger, Lichtner, Peter, Peppard, Paul, Faraco, Juliette, Mignot, Emmanuel, Gieger, Christian, Illig, Thomas, Wichmann, H-Erich, Müller-Myhsok, Bertram, Meitinger, Thomas

المساهمون: Institute of Human Genetics, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Department of Neurology, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health, Max-Planck-Institut für Psychiatrie, Max-Planck-Gesellschaft, Center of Parkinsonism and Movement Disorders, Paracelsus-Elena-Hospital, Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Sleep Research Unit, University of Turku, Department of Pulmonary Medicine, Tampere University Hospital, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Institute of Epidemiology and Social Medicine, Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Somnomar, Sleep Research Institute, Philipps University-Center of Nervous Diseases, Department of Clinical Neurophysiology, Georg-August-University = Georg-August-Universität Göttingen, Center of Excellence in Neuroscience, CHU de Montréal, Laboratoire d'étude des maladies du cerveau, Université de Montréal (UdeM)-Hopital Notre-Dame-Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CR CHUM), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM)-Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM), Centre d'étude du sommeil, Hôpital du Sacré-Coeur de Montréal, Interdisciplinary Center of Sleep Medicine, Universitätsmedizin Berlin-Internetseiten der Charité, 1. lékařská fakulta, Univerzita Karlova Praha, Česká republika = First Faculty of Medicine, Charles University Prague, Czech Republic (1. LF UK / 1st Faculty of Medicine), Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK)-Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Centre for Molecular Medicine and Therapeutics, University of British Columbia (UBC), Johns Hopkins University (JHU), Baylor College of Medecine, Medizinische Universität Wien = Medical University of Vienna, Institute for Molecular Medicine Finland Helsinki (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Department of Chronic Disease Prevention, National Institute for Health and Welfare Helsinki, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute of Experimental Medicine, Czech Academy of Sciences Prague (CAS), Department of Population Health Sciences, University of Wisconsin-Madison, Center For Narcolepsy, Stanford University, Institute of Genetic Epidemiology, Helmholtz Zentrum München = German Research Center for Environmental Health, Unit for Molecular Epidemiology, Institute of Medical Informatics, Biometry, and Epidemiology, Chair of Epidemiology-Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Institute of Epidemiology I, Klinikum Großhadern, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM)-Campus Großhadern, The replication phase was supported by a grant from the US RLS Foundation. Part of this work was financed by the National Genome Research Network (NGFN). The KORA study group consists of H-E Wichmann (speaker), R Holle, J John, T Illig, C Meisinger, A Peters, and their coworkers, who are responsible for the design and conduction of the KORA studies. The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Zentrum München, which is funded by the German Federal Ministry of Education and Research and by the State of Bavaria. The collection of sociodemographic and clinical data in the Dortmund Health Study was supported by the German Migraine & Headache Society (DMKG) and by unrestricted grants of equal share from Astra Zeneca, Berlin Chemie, Boots Healthcare, Glaxo-Smith-Kline, McNeil Pharma (former Woelm Pharma), MSD Sharp & Dohme, and Pfizer to the University of Muenster. Blood collection in the Dortmund Health Study was done through funds from the Institute of Epidemiology and Social Medicine, University of Muenster. Data collection in the COR-Study was supported by unrestricted grants of the German RLS Society (Deutsche Restless Legs Vereinigung e.V.) and Axxonis Pharma, Boehringer Ingelheim Pharma, Mundipharma Research, Roche Pharma, and UCB to the University of Muenster. CG Bachmann was supported by grants of the German RLS Society, Deutsche Restless Legs Vereinigung, e.V. H Prokisch and T Meitinger were supported by the German Federal Ministry of Education and Research (BMBF) project Systems Biology of Metabotypes (SysMBo #0315494A). RP Allen and CJ Earley were supported by the grant PO1-AG21190 National Institute of Health, USA, the Canadian part of the study was supported by a Canadian Institutes of Health Research (CIHR) grant to GA Rouleau and J Montplaisir. D Kemlink and S Nevsimalova were supported by an ESRS grant MSM0021620849, Jávrová and K Sonka were supported by grant MSM0021620816. Recruitment of Czech controls was funded by grant IGA NR 8563-5, Ministry of Health of the Czech Republic. B Frauscher, I Cournu-Rebeix, M Francavilla, and C Fontenille are co-authors on behalf of BRC-REFGENSEP, which is supported by INSERM, AFM (Généthon), ARSEP, and GIS-IBISA.

المصدر: ISSN: 1553-7390.

مصطلحات موضوعية: MESH: Chromosomes, Human, Pair 16, Pair 2, MESH: Genetic Loci, MESH: Genetic Predisposition to Disease, MESH: Genome-Wide Association Study, MESH: Humans, MESH: Polymorphism, Single Nucleotide, MESH: Reproducibility of Results, MESH: Restless Legs Syndrome, MESH: Risk Factors, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21779176; inserm-00711782; https://inserm.hal.science/inserm-00711782Test; https://inserm.hal.science/inserm-00711782/documentTest; https://inserm.hal.science/inserm-00711782/file/journal.pgen.1002171.pdfTest; PUBMED: 21779176

الإتاحة: https://doi.org/10.1371/journal.pgen.1002171Test
https://inserm.hal.science/inserm-00711782Test
https://inserm.hal.science/inserm-00711782/documentTest
https://inserm.hal.science/inserm-00711782/file/journal.pgen.1002171.pdfTest

المؤلفون: Azita Sadeghpour, Christelle Golzio, Jason R. Willer, Benjamin M. Helm, Eric R. Crouch, Erica E. Davis, Samantha A. Schrier Vergano, Nicholas Katsanis

المساهمون: univOAK, Archive ouverte, Indiana University School of Medicine, Indiana University System, Duke University Medical Center, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Eastern Virginia Medical School

المصدر: Human Genomics
Human Genomics, 2017, 11 (1), ⟨10.1186/s40246-017-0111-9⟩
Human Genomics, Vol 11, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: 0301 basic medicine, Proband, Biallelic Mutation, Male, lcsh:QH426-470, Cerebellar Ataxia, Mutation, Missense, lcsh:Medicine, Locus (genetics), [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Bioinformatics, Ciliopathies, 03 medical and health sciences, Conorenal dysplasia, Chromosome 16, Drug Discovery, Genetics, Animals, Humans, Molecular Biology, Exome sequencing, Cells, Cultured, Zebrafish, B-Lymphocytes, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genetic heterogeneity, lcsh:R, Homozygote, Heterodisomy, Whole exome sequencing, Exons, Uniparental Disomy, Skeletal ciliopathy, 3. Good health, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Uniparental Isodisomy, Intraflagellar transport, Child, Preschool, Molecular Medicine, Female, Primary Research, Carrier Proteins, Chromosomes, Human, Pair 16, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba4f5464411a44cf882be28653400abTest
https://hal.science/hal-03679188Test

المؤلفون: Aurélia Jacquette, Alice Goldenberg, Thierry Frebourg, Julien Thevenon, David Geneviève, Anne-Marie Guerrot, Andrée Delahaye-Duriez, Yline Capri, Bruno Leheup, François Lecoquierre, Florence Riccardi, Tiffany Busa, Laurent Villard, Pierre Cacciagli, Vincent Gatinois, Julien Mancini, Chantal Missirian, Lionel Van Maldergem, Massimiliano Rossi, Laurence Perrin, Catherine Vincent-Delorme, Pascale Saugier-Veber, Philippe Khau Van Kien, Gwenaël Nadeau, Annick Toutain, Alain Verloes, Sandrine Marlin, Rolph Pfundt, Elise Schaefer, Arthur Sorlin, Vincent Michaud, Christel Thauvin-Robinet, Philippe Parent, Cyril Mignot, Charles Coutton, Nicole Philip, Véronique Satre, Aude Tessier

المساهمون: Service de génétique [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Department of Human Genetics, Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Institut d'oncologie/développement Albert Bonniot de Grenoble ( INSERM U823 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital Jean Verdier, Génétique du cancer et des maladies neuropsychiatriques ( GMFC ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU Rouen, Cellules souches mésenchymateuses, environnement articulaire et immunothérapies de la polyarthrite rhumatoide, Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Régional Universitaire de Nîmes ( CHRU Nîmes ), Service de Génétique Médicale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CHU Trousseau [APHP], Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), École Supérieure des Géomètres et Topographes ( ESGT CNAM ), Conservatoire National des Arts et Métiers [CNAM] ( CNAM ), Laboratoire de Géodésie et de Géomatique ( L2G ESGT CNAM ), Conservatoire National des Arts et Métiers [CNAM] ( CNAM ) -Conservatoire National des Arts et Métiers [CNAM] ( CNAM ) -Conservatoire National des Arts et Métiers [CNAM] ( CNAM ), Service de Cytogénétique, Centre hospitalier de Valence, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Centre Interdisciplinaire de Nanoscience de Marseille ( CINaM ), Aix Marseille Université ( AMU ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de recherche en neurosciences de Lyon ( CRNL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Service de génétique [Tours], Hôpital Bretonneau-CHRU Tours, Service de Génétique, Hôpital de Hautepierre [Strasbourg], Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Laboratoire Chrono-environnement ( LCE ), Université Bourgogne Franche-Comté ( UBFC ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Franche-Comté ( UFC ), AGeing and IMagery ( AGIM ), Université Pierre Mendès France - Grenoble 2 ( UPMF ) -Université Joseph Fourier - Grenoble 1 ( UJF ) -École pratique des hautes études ( EPHE ) -Centre National de la Recherche Scientifique ( CNRS ), Service de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP), Centre de Maladies Rares, Anomalies du Développement Nord de France-CH Arras - CHRU Lille, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale ( SESSTIM ), Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -ORS PACA-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Paoli Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Biostatistique et technologies de l'information et de la communication (BioSTIC) - [Hôpital de la Timone - APHM] ( BiosTIC ), Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ) -Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale ( SESSTIM ), Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -ORS PACA-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -ORS PACA-Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Radboud University Medical Center [Nijmegen], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut d'oncologie/développement Albert Bonniot de Grenoble (INSERM U823), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU de Bordeaux Pellegrin [Bordeaux], Centre Interdisciplinaire de Nanoscience de Marseille (CINaM), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AGeing and IMagery (AGIM), Centre National de la Recherche Scientifique (CNRS)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Pierre Mendès France - Grenoble 2 (UPMF), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U912 INSERM - Aix Marseille Univ - IRD), Institut de Recherche pour le Développement (IRD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Institut Paoli-Calmettes, Biostatistique et technologies de l'information et de la communication (BioSTIC) - [Hôpital de la Timone - APHM] (BiosTIC ), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gall, Valérie, Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), Institut National de la Santé et de la Recherche Médicale (INSERM)-EFS-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF), Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859

مصطلحات موضوعية: Male, 0301 basic medicine, 030105 genetics & heredity, medicine.disease_cause, Bioinformatics, Intellectual disability, Child, Genetics (clinical), Genetics, Comparative Genomic Hybridization, Mutation, Middle Aged, KBG syndrome, Phenotype, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, Chromosome Deletion, medicine.symptom, Haploinsufficiency, Adult, Adolescent, Biology, Malignancy, Short stature, ANKRD11, Young Adult, 03 medical and health sciences, Intellectual Disability, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, Precocious puberty, Abnormalities, Multiple, long-term prognosis, Alleles, Genetic Association Studies, Aged, Retrospective Studies, Bone Diseases, Developmental, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Tooth Abnormalities, 16q24.3 deletion, Point mutation, Facies, Infant, medicine.disease, haploinsufficiency, Repressor Proteins, Amino Acid Substitution, Autism, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9893a4cf738da58e20ba8d0b0c43ef2Test
https://hal.archives-ouvertes.fr/hal-01469066Test

المؤلفون: Etienne Patin, Alexis Brice, Caroline Nava, Christel Depienne, Richard Delorme, Marion Leboyer, Christopher Gillberg, Guillaume Laval, Thomas Bourgeron, Elodie Ey, Nathalie Lemière, Guillaume Huguet, Pierre Szepetowski

المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Fondation FondaMental [Créteil], Psychiatrie génétique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Mondor de Recherche Biomédicale, Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U901), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gillberg Neuropsychiatry Centre [Göteborg, Sueden], Institute of Neuroscience and Physiology [Göteborg]-University of Gothenburg (GU), University College of London [London] (UCL), This work was funded by the Institut Pasteur, CNRS, INSERM, AP-HP, University Paris Diderot, the Bettencourt-Schueller foundation, the Orange foundation, the FondaMental foundation, the Conny-Maeva foundation, the Cognacq-Jay foundation, the ANR (SynDivAutism), Neuron-ERANET (EUHF-AUTISM).The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., ANR-13-SAMA-0006,SynDivAutism,Diversité Synaptique dans l'autisme(2013), European Project: 291840,EC:FP7:HEALTH,FP7-ERANET-2011-RTD,ERA-NET NEURON II(2012), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL UPMC, Gestionnaire, Santé Mentale et Addictions - Diversité Synaptique dans l'autisme - - SynDivAutism2013 - ANR-13-SAMA-0006 - SAMENTA - VALID, Network of European funding for Neuroscience research - ERA-NET NEURON II - - EC:FP7:HEALTH2012-01-01 - 2015-12-31 - 291840 - VALID

المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2014, 9 (3), pp.e88600. ⟨10.1371/journal.pone.0088600⟩
PLoS ONE, 2014, 9 (3), pp.e88600. ⟨10.1371/journal.pone.0088600⟩
PLoS ONE, Vol 9, Iss 3, p e88600 (2014)

مصطلحات موضوعية: Evolutionary Genetics, Nonsynonymous substitution, Candidate gene, Epidemiology, Developmental and Pediatric Neurology, medicine.disease_cause, 0302 clinical medicine, Psychiatry, Child Psychiatry, Genetics, 0303 health sciences, Mutation, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Multidisciplinary, 3. Good health, Mental Health, Neurology, Autism spectrum disorder, Genetic Epidemiology, Medicine, Research Article, Heterozygote, Science, Nerve Tissue Proteins, Biology, Frameshift mutation, 03 medical and health sciences, Genetic Mutation, medicine, Humans, Genetic Association Studies, 030304 developmental biology, Evolutionary Biology, Epilepsy, Population Biology, Genetic Variation, Membrane Proteins, Human Genetics, Paroxysmal dyskinesia, medicine.disease, Child Development Disorders, Pervasive, Case-Control Studies, Genetics of Disease, Autism, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, PRRT2, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd7bbc014327eb0799b034936ce850bTest
https://hal.sorbonne-universite.fr/hal-01361043/documentTest

المؤلفون: M Gribaa, M. Almubarak, C Bétard, Mathieu Anheim, Salah A. Elmalik, Ahmed Mohamed, D. H'Mida, Nathalie Drouot, M. Koenig, Clotilde Lagier-Tourenne, Mohammad M. Kabiraj, H. Goebel, Mustafa A. Salih, M. Al-Rayess

المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2007, 130 (Pt 7), pp.1921-8. ⟨10.1093/brain/awm078⟩
Brain-A Journal of Neurology, 2007, 130 (Pt 7), pp.1921-8. ⟨10.1093/brain/awm078⟩

مصطلحات موضوعية: Male, Pathology, Biopsy, Quadriceps Muscle, MESH: Magnetic Resonance Imaging, MESH: Genotype, Epilepsy, MESH: Biopsy, 0302 clinical medicine, MESH: Mental Retardation, MESH: Child, Child, 0303 health sciences, Homozygote, Brain, Chromosome Mapping, Electroencephalography, Infantile onset spinocerebellar ataxia, Magnetic Resonance Imaging, Pedigree, 3. Good health, Child, Preschool, Spinocerebellar ataxia, Female, MESH: Quadriceps Muscle, medicine.symptom, MESH: Homozygote, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Genotype, MESH: Pedigree, MESH: Spinocerebellar Ataxias, MESH: Microscopy, Electron, Lafora disease, MESH: Vacuoles, Ophthalmoparesis, 03 medical and health sciences, MESH: Brain, Intellectual Disability, MESH: Electroencephalography, medicine, Humans, Spinocerebellar Ataxias, 030304 developmental biology, MESH: Adolescent, MESH: Humans, business.industry, MESH: Child, Preschool, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: Male, nervous system diseases, Microscopy, Electron, Vacuoles, Myoclonic epilepsy, Epilepsy, Tonic-Clonic, Neurology (clinical), business, MESH: Chromosome Mapping, Myoclonus, MESH: Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 16, MESH: Epilepsy, Tonic-Clonic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518950dadddf8353e53d6758dc1c7558Test
https://hal.archives-ouvertes.fr/hal-00189388Test

المؤلفون: Laurence Colleaux, Séverine Moindrault, Martine Le Merrer, Odile Raoult, Solange Heuertz, Valérie Cormier-Daire, Stanislas Lyonnet, François Cornelis, Marguerite Prieur, Monique Picq, Philippe Gosset, Catherine Ozilou, Marlène Rio, Serge Romana, Marie-Christine de Blois, Catherine Turleau, Arnold Munnich, Jeanne Amiel, Michel Vekemans

المساهمون: Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génopole [Evry], Université d'Évry-Val-d'Essonne (UEVE), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], This work was supported by Centre National de la Recherche Scientifique and by Fondation pour la Recherche Médicale, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2001, 9 (5), pp.319-327. ⟨10.1038/sj.ejhg.5200591⟩
European Journal of Human Genetics, 2001, 9 (5), pp.319-327. ⟨10.1038/sj.ejhg.5200591⟩

مصطلحات موضوعية: Male, Non-Mendelian inheritance, MESH: Genetic Markers, Translocation, Genetic, MESH: Genotype, Monosomy, 0302 clinical medicine, MESH: Child, Child, Genetics (clinical), Gene Rearrangement, Genetics, 0303 health sciences, MESH: Genetic Testing, 030305 genetics & heredity, Telomere, Subtelomere, MESH: Monosomy, MESH: Translocation, Genetic, Pedigree, Cytogenetic Analysis, Microsatellite, Fish , Chromosomes, Human, Pair 6, Female, Genetic Markers, Genotype, MESH: Chromosomes, Human, Pair 6, MESH: Pedigree, MESH: Gene Rearrangement, Biology, MESH: Intellectual Disability, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Testing, Genotyping, MESH: Humans, Chromosomes, Human, Pair 10, MESH: Cytogenetic Analysis, MESH: Male, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic marker, MESH: Chromosomes, Human, Pair 10, Karyotyping, MESH: Telomere, MESH: Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Uniparental Disomies, MESH: Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411bc24a85e9e40cdb267ad841e89131Test
https://hal.archives-ouvertes.fr/hal-02090216Test

المؤلفون: Maria Råstam, I. Carina Gillberg, Thomas Bourgeron, Roberto Toro, Marie Christine Mouren-Simeoni, Ola Ståhlberg, Marina Konyukh, Frédérique Amsellem, Richard Delorme, Henrik Anckarsäter, Christopher Gillberg, Nathalie Lemière, Marion Leboyer, Fabien Fauchereau, Pauline Chaste, Claire S. Leblond, Gudrun Nygren, Evelyn Herbrecht

المساهمون: Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Göteborgs Universitet (GU), Lund University [Lund], Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut Mondor de médecine moléculaire (Im3), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Fondation FondaMental [Créteil], The Institut Pasteur, INSERM, CNRS, University Denis Diderot Paris 7, ANR, Fondation FondaMentale, PHRC and Fondation Orange supported this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript., Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)

المصدر: PLoS ONE
PLoS ONE, Public Library of Science, 2011, 6 (3), pp.e17289. ⟨10.1371/journal.pone.0017289⟩
PLoS ONE; 6(3), no e17289 (2011)
PLoS ONE, 2011, 6 (3), pp.e17289. ⟨10.1371/journal.pone.0017289⟩
PLoS ONE, Vol 6, Iss 3, p e17289 (2011)

مصطلحات موضوعية: Male, Candidate gene, Genetic Screens, Developmental and Pediatric Neurology, Pediatrics, Chromosomal Disorders, 0302 clinical medicine, Child, Genetics, Psychiatry, 0303 health sciences, education.field_of_study, Multidisciplinary, Chromosomal Deletions and Duplications, Pedigree, Mental Health, Neurology, Autism spectrum disorder, Medicine, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Research Article, Science, Population, Biology, Molecular Genetics, 03 medical and health sciences, Developmental Neuroscience, Genetic Mutation, Genetic variation, mental disorders, medicine, Humans, Genetic variability, education, Genetic Association Studies, 030304 developmental biology, Clinical Genetics, Genome, Human, Genetic Variation, Membrane Proteins, Human Genetics, medicine.disease, Genetics, Population, Asperger syndrome, Child Development Disorders, Pervasive, Case-Control Studies, Genetics of Disease, Autism, Human genome, Molecular Neuroscience, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f47952af03be2ae003322f497c231b9Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-01967143/file/konyukh-bourgeron2011ASD.pdfTest

المؤلفون: Bourthoumieu, Sylvie, Esclaire, F., Terro, F., Fiorenza, M., Aubard, V., Malan, V., Romana, S., Yardin, Catherine

المساهمون: Homéostasie Cellulaire et Pathologies (HCP), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Equipe de Recherche Médicale Appliquée (ERMA), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges

المصدر: ISSN: 0197-3851.

مصطلحات موضوعية: MESH: Adult, MESH: Amniocentesis, MESH: Chromosome Banding, MESH: Chromosome Disorders, MESH: Chromosomes, Human, Pair 16, MESH: Female, MESH: Humans, MESH: Male, MESH: Prenatal Diagnosis, MESH: Ultrasonography, Prenatal, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18241085; hal-00650725; https://hal-unilim.archives-ouvertes.fr/hal-00650725Test; PUBMED: 18241085

الإتاحة: https://doi.org/10.1002/pd.1949Test
https://hal-unilim.archives-ouvertes.fr/hal-00650725Test