المؤلفون: Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 2-9 (2020)

مصطلحات موضوعية: congenital disorders of deglycosylation, dyskinesia, global developmental delay, NGLY1, whole exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/29dc8333e01c4efd916f41810852bfb1Test

المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development

المصدر: Nature genetics. Nature Publishing Group

مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test

المؤلفون: Aida M. Bertoli-Avella, José Pedro Vieira, Ana Berta Sousa, Juliette Dupont, Ana Lisa Taylor Tavares, Carla Conceição, Suliman Khan

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Aplasia/Hypoplasia, Developmental Disabilities, Hearing Loss, Sensorineural, Keratoconjunctivitis, Dwarfism, Nerve Tissue Proteins, HDE NEU PED, Congenital cranial dysinnervation disorder, Vestibulo-cochlear nerve aplasia, 030105 genetics & heredity, 03 medical and health sciences, Intellectual Disability, NEUROG1, Oromotor dysfunction, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Trigeminal Nerve, Corneal reflex, Child, Cochlear Nerve, Genetics (clinical), Loss function, business.industry, Cranial nerves, Sensorineural deafness, medicine.disease, Hypoplasia, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, HDE NRAD, Atresia, Muscle Hypotonia, Sensorineural hearing loss, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1917920b05803f89457674d8a524a2e9Test

المؤلفون: Sandra Whalen, Juliette Dupont, Sandrine Vuillaumier-Barrot, Chloe Hanna, Gorjana Robevska, Phillipa J. Lamont, Lurdes Sampaio, John Christodoulou, Rocio Rius, Elena J. Tucker, André Travessa, Jocelyn van den Bergen, Andrew H. Sinclair, Arnaud Isapof, Katrina M. Bell, Andrea Simpson, Jérôme Dulon, Sylvie Jaillard, Tanya Stojkovic, Susana Quijano-Roy, David R. Thorburn, Katie L. Ayers, Philippe Touraine

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Filière Neuromusculaire (FILNEMUS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), National Health and Medical Research Council (NHMRC)National Health and Medical Research Council of Australia [1113531], NHMRCNational Health and Medical Research Council of Australia [1074258, 1054432, 1062854, 1155244], CONACYTConsejo Nacional de Ciencia y Tecnologia (CONACyT), Victorian Government's Operational Infrastructure Support Program, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: Human Genetics
Human Genetics, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩
Human Genetics, Springer Verlag, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Mitochondrial translation, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Gene Expression, Biology, DNA, Mitochondrial, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Farnesyltranstransferase, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Ovary, High-Throughput Nucleotide Sequencing, Geranyltranstransferase, Endopeptidase Clp, TFAM, medicine.disease, Dimethylallyltranstransferase, Human genetics, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, DNA-Binding Proteins, Protein prenylation, ATPases Associated with Diverse Cellular Activities, Female, PEX6, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24b1eaa8ecc2ffcfe237546d81b48c2Test
https://univ-rennes.hal.science/hal-02796991Test

المؤلفون: Morgane Stichelbout, Florence Petit, Perrine Brunelle, Tiffany Busa, Jelena Martinovic, Anne Moncla, Frédéric Frénois, Anne-Sophie Jourdain, Sylvie Manouvrier-Hanu, Juliette Dupont, Fabienne Escande

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Male, Ectrodactyly, Polydactyly, Foot malformation, business.industry, Genetic heterogeneity, Long bone, Limb Deformities, Congenital, Anatomy, medicine.disease, Pedigree, Wnt Proteins, Split-Hand/Foot Malformation, medicine.anatomical_structure, Proto-Oncogene Proteins, Genetics, medicine, Humans, Female, Syndactyly, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faefc181ea153de0092030d3f24dc7a0Test
https://doi.org/10.1002/ajmg.a.61177Test

المؤلفون: Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá

المساهمون: Instituto de Investigação e Inovação em Saúde, Human genetics, Pathology, Universidade do Minho

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0Test, https://doi.org/10.1186/s13023-019-1135-0Test
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genotype-phenotype correlation, endocrine system diseases, Medicina Básica [Ciências Médicas], Neurodevelopment, lcsh:Medicine, Disease, 030105 genetics & heredity, 0302 clinical medicine, Intellectual disability, Pharmacology (medical), Copy-number variation, Genetics (clinical), Genetics, Comparative Genomic Hybridization, General Medicine, Genomics, Phenotype, 3. Good health, Pedigree, Ciências Médicas::Medicina Básica, Female, DNA Copy Number Variations, Copy number analysis, Biology, Histone-Lysine N-Methyltransferase / genetics, 03 medical and health sciences, DNA Copy Number Variations / genetics, Intellectual Disability, mental disorders, medicine, Humans, Intellectual Disability / genetics, Genetic Association Studies, CNVs, Chromosome Aberrations, Science & Technology, Research, lcsh:R, Histone-Lysine N-Methyltransferase, medicine.disease, Human genetics, CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Etiology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027baceTest
https://hdl.handle.net/10216/139000Test

المؤلفون: Asunción Vicente, Christine Léauté-Labrèze, Hannah M Bombei, Eleonore Pairet, Laurence M. Boon, Carle Paul, David G. Brooks, Ilona J. Frieden, Anne M. Turner, Reed E. Pyeritz, Miikka Vikkula, Raphaël Helaers, David J. Amor, Juliette Dupont, Malin Kvarnung, Marcia C. Willing, Mustapha Amyere, Josée Dubois, Annouk Bisdorff, Shoji Watanabe, Denise W. Metry, Philippe Parent, Loreto Martorell, A. Phan, Ashley Wilson, Orli Wargon, John B. Mulliken, Aicha Salhi, Anne Dompmartin, Catherine McCuaig, Francine Blei, Pierre Vabres, Louanne Hudgins, Eulalia Baselga, María Antonia González-Enseñat, Marion Gérard, Isabelle Quéré, Andrea Hanson-Kahn, Maria R. Cordisco, Nicole Revencu, Wendy K. Chung, Jean-Philippe Lacour, Juliette Mazereeuw-Hautier, Lisa Weibel, Florence Petit

المساهمون: Service de Dermatologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Catholique de Louvain = Catholic University of Louvain (UCL)

المصدر: Circulation
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Circulation, American Heart Association, 2017, 136 (11), pp.1037-1048. ⟨10.1161/CIRCULATIONAHA.116.026886⟩
CIRCULATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Publons

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, MAP Kinase Signaling System, Port-Wine Stain, Receptor, EphB4, arteriovenous malformation, P120 GTPase Activating Protein, Genome-wide association study, Biology, Germline, capillary, Arteriovenous Malformations, 03 medical and health sciences, Germline mutation, Physiology (medical), Databases, Genetic, medicine, Humans, Missense mutation, genetics, arteriovenous fistula, Germ-Line Mutation, Loss function, Genetics, vascular endothelial function, venous, p120 GTPase Activating Protein, Arteriovenous malformation, vascular disease, medicine.disease, Capillaries, Pedigree, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, Cardiology and Cardiovascular Medicine, linkage, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1251887ddfadee32b56bad98e2b76c1Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12677Test

المؤلفون: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

المصدر: Clinical Genetics. 84:539-545

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Nonsense, Bioinformatics, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Coding region, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, Mutation, Sotos syndrome, business.industry, medicine.disease, Phenotype, business, Kabuki syndrome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9aTest
https://doi.org/10.1111/cge.12081Test

المؤلفون: Josephine Wincent, Elena Dominguez Garrido, Adam Shaw, Benjamin D. Solomon, Julien Van Gils, Catherine Vincent-Delorme, Christine M. Armour, Katherine Lachlan, Agnieszka Stembalska, Alexandra Afenjar, Dragana Josifova, Patricia Fergelot, Oliver Bartsch, Tiffany Busa, Benoit Arveiler, Samuel Gebre-Medhin, Amaia Sojo, Paulien A. Terhal, Willie Reardon, Jukka S. Moilanen, Lidia Larizza, Saskia M. Maas, S. Thomas, Cristina Gervasini, Dorien J.M. Peters, Lex Beets, Nathalie Dorison, Robert Smigiel, Martine J. van Belzen, Constance T. R. M. Stumpel, Juliette Dupont, Raoul C.M. Hennekam, Julie Deforges, Philippe Parent, Didier Lacombe, Ann Nordgren, Lydie Burglen, Alain Verloes, Bruno Maranda, Marion Gérard, Joelle Roume, Marie Collet, Blanca Gener Querol, Renaud Touraine, Marlène Rio, Christine Francannet, Alice Goldenberg, Elisabeth Gabau Vila, Sixto García-Miñaur, David Geneviève, Bert B.A. de Vries, Francisco Suarez, Julia Rankin

المساهمون: ANS - Complex Trait Genetics, Human Genetics, APH - Amsterdam Public Health, Paediatric Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Genetica & Celbiologie, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jérôme Lejeune, CHU Clermont-Ferrand, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHI Poissy-Saint-Germain, CHU Saint-Etienne, AP-HP Hôpital universitaire Robert-Debré [Paris], Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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 Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)

المصدر: American journal of medical genetics. Part A, 170(12), 3069-3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 3069-3082
American Journal of Medical Genetics Part A, 170(12), 3069-3082. Wiley
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics Part A, 170(12), 3069-3082
American Journal of Medical Genetics Part A, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics. Part A, 170(2), 3069–3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 12, pp. 3069-3082

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, pre-eclampsia, Genotype, phenotype, genotype, Mutation, Missense, Biology, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, Pregnancy, medicine, Genetics, Journal Article, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics(clinical), EP300, Genetic Association Studies, Genetics (clinical), Rubinstein-Taybi syndrome, Sequence Deletion, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Middle Aged, Chromatin Assembly and Disassembly, medicine.disease, CREB-Binding Protein, Phenotype, Developmental disorder, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, E1A-Associated p300 Protein, Pre-eclampsia

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af369f31b9af763ef2d159d840ca4583Test
https://pure.amc.nl/en/publications/phenotype-and-genotype-in-52-patients-with-rubinsteintaybi-syndrome-caused-by-ep300-mutationsTest(8425e627-d92b-4cb6-a6a8-e5b3d907507e).html

المؤلفون: Vera M. Kalscheuer, Céline Bonnet, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Laurent Villard, Jacques Motte, Ana Medeira, Martine Doco-Fenzy, Heng-Ye Man, Lionel Van Maldergem, Arjan P.M. de Brouwer, Marlène Rio, Christelle Cabrol, Juliette Dupont, Qingming Hou, Laurence Colleaux

المساهمون: Université Bourgogne Franche-Comté ( UBFC ), Boston University [Boston] ( BU ), Human Molecular Genetics, CHU Necker - Enfants Malades [AP-HP], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de Génétique, Centre Hospitalier Universitaire de Reims ( CHU Reims ) -Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne ( URCA ) -Université de Reims Champagne-Ardenne ( URCA ), Institute of Medical Genetics, Radboud University Medical Center [Nijmegen], Neuroscience Paris Seine ( NPS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Max Planck Institute for Molecular Genetics, 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 ), Service de Génétique Médicale du CHU de Bordeaux, Service de génétique [Reims], Centre Hospitalier Universitaire de Reims ( CHU Reims ), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Sciences Po Grenoble - Institut d'études politiques de Grenoble ( IEPG ), Regional Hospital, Boston University [Boston] (BU), Department Human Molecular Genetics [MPIMG Berlin], Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Department of Human Genetics, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), 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), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, American Memorial Hospital (Reims), COLLEAUX, Laurence

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3306-3314. 〈10.1093/hmg/ddt187〉
Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Human Molecular Genetics; Vol 22
Human Molecular Genetics, 22, 3306-14
Human Molecular Genetics, 22, 16, pp. 3306-14
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Europe PubMed Central

مصطلحات موضوعية: Male, Genetic Linkage, Bioinformatics, MESH: Child Development Disorders, Pervasive, 0302 clinical medicine, Genes, X-Linked, MESH: Child, Intellectual disability, MESH: Sequence Analysis, RNA, MESH: Animals, MESH: Genetic Variation, Child, Cells, Cultured, Genetics (clinical), X-linked recessive inheritance, Exome sequencing, ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Massive parallel sequencing, Brain, Articles, General Medicine, Autism spectrum disorder, MESH: Young Adult, Child, Preschool, Gene Knockdown Techniques, MESH: Cells, Cultured, Adult, Adolescent, Neurite, MESH: Rats, MESH: Genetic Linkage, Context (language use), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, MESH: Intellectual Disability, Young Adult, 03 medical and health sciences, MESH: Brain, Intellectual Disability, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Neurites, medicine, Animals, Humans, Molecular Biology, Loss function, 030304 developmental biology, MESH: Adolescent, MESH: Humans, [ SDV ] Life Sciences [q-bio], Sequence Analysis, RNA, MESH: Child, Preschool, Genetic Variation, MESH: Adult, medicine.disease, MESH: Neurites, MESH: Gene Knockdown Techniques, MESH: Male, Rats, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], MESH: Genes, X-Linked, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child Development Disorders, Pervasive, [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [ SDV.GEN ] Life Sciences [q-bio]/Genetics, 030217 neurology & neurosurgery

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