المؤلفون: Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle

المصدر: PLoS ONE, Vol 9, Iss 8, p e104163 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4122416?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/15c887a1f0b749fc8219f95900909adcTest

المؤلفون: Adam C. O’Neill, Christina Kyrousi, Johannes Klaus, Richard J. Leventer, Edwin P. Kirk, Andrew Fry, Daniela T. Pilz, Tim Morgan, Zandra A. Jenkins, Micha Drukker, Samuel F. Berkovic, Ingrid E. Scheffer, Renzo Guerrini, David M. Markie, Magdalena Götz, Silvia Cappello, Stephen P. Robertson

المصدر: Cell Reports, Vol 25, Iss 10, Pp 2729-2741.e6 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124718317753Test; https://doaj.org/toc/2211-1247Test

الوصول الحر: https://doaj.org/article/d95a7e66dd6f4400b94ec2e97ad2e7b3Test

المؤلفون: Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry

المصدر: Brain Sciences; Volume 8; Issue 8; Pages: 145

مصطلحات موضوعية: TUBA1A, tubulin, p.(Arg2His), R2H, tubulinopathy, polymicrogyria, cerebellar hypoplasia

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/brainsci8080145Test

الإتاحة: https://doi.org/10.3390/brainsci8080145Test

المؤلفون: Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://wellcomeopenresearch.org/articles/3-46/v1Test; https://doaj.org/toc/2398-502XTest; https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ecTest

الإتاحة: https://doi.org/10.12688/wellcomeopenres.14430.1Test
https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ecTest

المؤلفون: Julian C. Knight, Elma Stephen, Houman Ashrafian, Andreas Brunklaus, Ioana Cutcutache, Shelagh Joss, Alice Jollands, Liam Dorris, Martin Armstrong, Elizabeth Pilley, Jay Shetty, Joseph D. Symonds, Katherine S. Elliott, Kirsty Stewart, Daniela T. Pilz, Mary O'Regan, Sarah L. Gardiner, Martin Kirkpatrick, Sameer M. Zuberi, Matthew Page, S. MacLeod, Louise A Diver, Ailsa McLellan

المصدر: Symonds, J D, Elliott, K S, Shetty, J, Armstrong, M, Brunklaus, A, Cutcutache, I, Diver, L A, Dorris, L, Gardiner, S, Jollands, A, Joss, S, Kirkpatrick, M, McLellan, A, MacLeod, S, O'Regan, M, Page, M, Pilley, E, Pilz, D T, Stephen, E, Stewart, K, Ashrafian, H, Knight, J C & Zuberi, S M 2021, ' Early childhood epilepsies : Epidemiology, classification, aetiology, and socio-economic determinants ', Brain, vol. 144, no. 9, pp. 2879-2891 . https://doi.org/10.1093/brain/awab162Test
Brain

مصطلحات موضوعية: Male, Drug Resistant Epilepsy, medicine.medical_specialty, Pediatrics, Cohort Studies, Epilepsy, Epidemiology, medicine, Humans, genetics, Prospective Studies, Global developmental delay, Retrospective Studies, AcademicSubjects/SCI01870, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, Original Articles, Odds ratio, medicine.disease, Comorbidity, Causality, Scotland, Socioeconomic Factors, Child, Preschool, Epilepsy syndromes, incidence, Etiology, epilepsy, Female, AcademicSubjects/MED00310, epidemiology, precision, Neurology (clinical), business, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf64056f1798d4da80c199c7cbb189bTest
https://eprints.gla.ac.uk/243667/2/243667.pdfTest

المؤلفون: Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: Ann Neurol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Sodium Channels, Article, 03 medical and health sciences, Epilepsy, SCN3A, 0302 clinical medicine, Neurodevelopmental disorder, Fetus, Channelopathy, Intellectual disability, medicine, NAV1.3 Voltage-Gated Sodium Channel, Missense mutation, Humans, Child, Sodium channel, Brain, Genetic Variation, Infant, medicine.disease, Electrophysiology, 030104 developmental biology, HEK293 Cells, Neurology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9Test
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdfTest

المؤلفون: Daniela T. Pilz, Katrien Stouffs, Orly Reiner, Anna Jansen, Eleonora Aronica, Edith Said, Renske Oegema, WB Dobyns, Richard J. Leventer, David Gomez Andres, Nadia Bahi-Buisson, Martina Wilke, Ivana Pogledic, Dina Amrom, Ute Hehr, Ghayda Mirzaa, Elena Parrini, Luis M Valor, Renzo Guerrini, Valerio Conti, Andrew E. Fry, Doriette Soler, Tahsin Stefan Barakat, Grazia M.S. Mancini, Nataliya Di Donato, Maha S. Zaki, T. Geis

المساهمون: Clinical Genetics, Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pathology, APH - Aging & Later Life, APH - Mental Health, ANS - Cellular & Molecular Mechanisms

المصدر: Nature reviews. Neurology
Nature Reviews Neurology, 16(11), 618-635. Nature Publishing Group
Nature Reviews. Neurology
Nature reviews. Neurology, 16(11), 618-635. Nature Publishing Group

مصطلحات موضوعية: medicine.medical_specialty, Consensus, Internationality, Delphi Technique, MEDLINE, Cerebral palsy, Cellular and Molecular Neuroscience, Epilepsy, Neurologie, Intellectual disability, medicine, Humans, Epilepsy surgery, Intensive care medicine, Diagnostic Tests, Routine, business.industry, Neurodevelopmental disorders, Consensus Statement, medicine.disease, Work-up, Paediatric neurological disorders, Malformations of Cortical Development, Workflow, Practice Guidelines as Topic, Etiology, Neurology (clinical), business, Sciences cognitives

وصف الملف: 2 full-text file(s): application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391fb74cf7cabbac024a26d2073c5fb8Test
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/313050Test

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977Test
https://urn.nsk.hr/urn:nbn:hr:105:093095Test

المؤلفون: Alice Jollands, Elma Stephen, Louise A Diver, Ailsa McLellan, Margaret Wilson, Mary Callaghan, Sarah L. Gardiner, Lesley Nairn, Andreas Brunklaus, Jamie Andrew, Calum A. Morrison, Jane MacDonnell, Rosemary Grattan, Martin Kirkpatrick, Shelagh Joss, Jean McKnight, Daniela T. Pilz, Bethan Lang, Jay Shetty, Sameer M. Zuberi, Philip Brink, Angela Vincent, Christine Findlay, Liam Dorris, Meghan M Slean, Mary O'Regan, Joseph D. Symonds, Jamie Cruden, S. MacLeod, Kirsty Stewart, Alan Webb, Ishaq Abu-Arafeh

المصدر: Symonds, J D, Zuberi, S M, McLellan, A, O'Regan, M, MacLeod, S, Jollands, A, Joss, S, Kirkpatrick, M, Brunklaus, A, Pilz, D T, Shetty, J, Dorris, L, Abu-Arafeh, I, Andrew, J, Brink, P, Callaghan, M, Cruden, J, Diver, L A, Findlay, C, Gardiner, S, Grattan, R, Lang, B, MacDonnell, J, McKnight, J, Morrison, C A, Nairn, L, Slean, M M, Stephen, E, Webb, A, Vincent, A & Wilson, M 2019, ' Incidence and phenotypes of childhood-onset genetic epilepsies : a prospective population-based national cohort ', Brain, vol. 142, no. 8, pp. 2303-2318 . https://doi.org/10.1093/brain/awz195Test
Brain

مصطلحات موضوعية: Adult, 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Population, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Humans, genetics, Prospective Studies, Child, education, Letters to the Editor, Genetic testing, education.field_of_study, medicine.diagnostic_test, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, Infant, Original Articles, medicine.disease, Comorbidity, humanities, Confidence interval, 030104 developmental biology, Phenotype, Scotland, Child, Preschool, Cohort, epidemiology, precision, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94b2203ec420f7e57699db7d491c859Test
https://hdl.handle.net/20.500.11820/285ac8b1-e397-4c36-afe5-f9439f06523bTest

المؤلفون: Sonal Mahida, Elliott H. Sherr, Elodie Lacaze, William B. Dobyns, Kosuke Izumi, Hilde Peeters, Marielle Alders, Catherine Nowak, Dawn L. Earl, Richard M. Gronostajski, Ryan J. Dean, Megan T. Cho, Anouck Schneider, Siren Berland, Patricia Blanchet, Laurence Faivre, Martin Zenker, Ina Schanze, Caitlin J. Bridges, Daniela T. Pilz, Sangamitra Boppudi, Ilse Wieland, Jens Bunt, Avni Santani, Jessica Douglas, Elaine H. Zackai, Muriel Holder-Espinasse, Linda J. Richards, Jean Baptiste Rivière, Tania Attié-Bitach, Timothy J. Edwards, Vincent Gatinois, Jacques Puechberty, Jonathan W. C. Lim, Ghayda Mirzaa, Sian Morgan, Phillis Lakeman, Steven Boogert, Samuel Huth, Marion Gérard, Denny Schanze, Florence Petit, Xiaonan Zhao, Eyal Reinstein, David Geneviève, Bronwyn Kerr, Dian Donnai, Constance Smith-Hicks, Brieana Fregeau

المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Pulmonary hypertension & thrombosis, Human Genetics, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University [Magdeburg] (OVGU), Queensland Brain Institute, University of Queensland [Brisbane], University of Amsterdam [Amsterdam] (UvA), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Embryology and genetics of human malformation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Haukeland University Hospital, University of Bergen (UiB), GeneDx [Gaithersburg, MD, USA], University of Washington [Seattle], Seattle Children’s Hospital, University of Manchester [Manchester], Boston Children's Hospital, Harvard Medical School [Boston] (HMS), 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), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, FHU TRANSLAD (CHU de Dijon), University of California [San Francisco] (UC San Francisco), University of California (UC), Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), 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), CHU Lille, Children’s Hospital of Philadelphia (CHOP ), Département de génétique (groupe hospitalier le Havre), Groupe Hospitalier du Havre, Kennedy Krieger Institute [Baltimore], University Hospital of Wales (UHW), University Hospitals Leuven [Leuven], University of Glasgow, Sackler Faculty of Medicine, Tel Aviv University (TAU), Perelman School of Medicine, University of Pennsylvania, This work was supported by grants from the National Healthand Medical Research Council Australia (GNT1100443 to L.J.R.), the French Ministry of Health (PHRC national 2008/2008-A00515-50), Regional Council of Burgundy/Dijon University hospital (PARI 2012), The Genesis Foundation for Children, the US National Institutes of Health under NINDS grants(1R01NS092772 and 234567890 to W.B.D., 1R01NS058721 toW.B.D. and E.H.S., and K08NS092898 to G.M.M.), and Jordan’s Guardian Angels (G.M.M.). J.W.C.L. was supported by an International Postgraduate Research Scholarship and UQ Centennial Scholarship. R.M.G. was supported by NYSTEM grants (C026714,C026429, and C030133). R.J.D. was supported by Brain Injured Children’s Aftercare Recovery Endeavours (BICARE) Fellowship.L.J.R. was supported by an NHMRC Principal Research Fellowship(GNT1005751). M.Z. was supported by a grant from the GermanMinistry of Education and Research (BMBF) (GeNeRARe01GM1519A). We acknowledge the Linkage Infrastructure, Equipment and Facilities (LIEF) grant (LE100100074) awarded to the Queensland Brain Institute for the Slide Scanner and the facilities of the National Imaging Facility (NIF) at the Centre for Advanced Imaging, University of Queensland, used in the animal experiments., European Project: 270259,EC:FP7:ICT,FP7-ICT-2009-6,TBICARE(2011), Institute of Human Genetics (University Hospital Magdeburg), University Hospital of the Otto von Guericke University of Magdeburg, Department of Clinical Genetics, Academic Medical Centre, Amsterdam, Institut de recherche en santé, environnement et travail (Irset), 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 ), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Bergen (UIB), Seattle Children's Research Institute, Department of Neurology (University of California : San Francisco), University of California [San Francisco] (UCSF), University of California-University of California, Department of Medical Genetics, HMNC Brain Health, Seattle Children’s Hospital [Seattle, WA, USA], Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc (CRLCC - CGFL), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Université de Lorraine (UL), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Pediatrics (Perelman School of Medicine), University of Pennsylvania [Philadelphia], Regional Genetic Service, St Mary's Hospital, Manchester, Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Department of Pediatrics [Seattle, WA, USA] (Division of Genetic Medicine), University of Washington [Seattle]-Seattle Children’s Hospital [Seattle, WA, USA], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales, Center for Human Genetics, University Hospitals Leuven, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc - U837 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille 2 - Faculté de Médecine -Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Medical Genetics Institute, Meir Medical Center, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, School of Computer Science and Technology, Northwestern Polytechnical University [Xi'an] (NPU), Department of Biochemistry and Developmental Genomics Group, University at Buffalo [SUNY] (SUNY Buffalo), State University of New York (SUNY)-State University of New York (SUNY)-Center of Excellence in Bioinformatics and Life Sciences, Institute of Human Genetics, University Hospital Magdeburg, université de Bourgogne, LNC, Evidence based Diagnostic and Treatment Planning Solution for Traumatic Brain Injuries - TBICARE - - EC:FP7:ICT2011-02-01 - 2014-07-31 - 270259 - VALID, Otto-von-Guericke University [Magdeburg] (OVGU), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of California, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Hospital of Wales [Cardiff, UK], Tel Aviv University [Tel Aviv]

المصدر: American journal of human genetics, 103(5), 752-768. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
American journal of human genetics, vol 103, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, chromosome 9p23, Medical and Health Sciences, Corpus Callosum, Cohort Studies, Mice, 2.1 Biological and endogenous factors, Megalencephaly, Aetiology, Child, Agenesis of the corpus callosum, Genetics (clinical), Pediatric, Genetics & Heredity, Cerebral Cortex, Mice, Knockout, Genetics, Single Nucleotide, nuclear factor I, Biological Sciences, NFIB, NFIX, developmental delay, Mental Health, Codon, Nonsense, NFIA, intellectual disability, Child, Preschool, chromosome 9p22.3, Neurological, Speech delay, Female, medicine.symptom, Haploinsufficiency, Adult, Adolescent, Knockout, Intellectual and Developmental Disabilities (IDD), [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, macrocephaly, Polymorphism, Single Nucleotide, Article, Young Adult, 03 medical and health sciences, Rare Diseases, Behavioral and Social Science, medicine, megalencephaly, Animals, Humans, Polymorphism, Codon, Preschool, Neurosciences, Macrocephaly, medicine.disease, Brain Disorders, haploinsufficiency, NFI Transcription Factors, 030104 developmental biology, Nonsense, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, agenesis of the corpus callosum

وصف الملف: Print; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9695545ac31c931a40288754e47b8ee9Test
https://doi.org/10.1016/j.ajhg.2018.10.006Test