المؤلفون: Ana Berta Sousa, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas J. Hand, Kosuke Izumi, Paula Jorge, Andrew C. Edmondson, Elisa De Franco, Linlea Armstrong, Michael E. March, Dirk Lefeber, Hans van Bokhoven, Miao He, Sian Ellard, Marina P Hommersom, Serwet Demirdas, Elaine H. Zackai, Fleur S van Dijk, Anna Lehman, Avni Santani, Daniel L. Polla, Daniel J. Rader, Arjan P.M. de Brouwer, Sandrine Duvet, Xin Bi, Sophie C. Huffels, Dmitriy Niyazov, Céline Schulz

المساهمون: Clinical Genetics, Repositório da Universidade de Lisboa

المصدر: American Journal of Human Genetics, 108(7), 1342-1349. Cell Press
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 108, 7, pp. 1342-1349
American Journal of Human Genetics, 108, 1342-1349
Am J Hum Genet

مصطلحات موضوعية: Male, Glycosylation, Mouse, Developmental Disabilities, Endoplasmic Reticulum, Compound heterozygosity, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, EIF2AK3, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Tunicamycin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Mannosidase, Child, Preschool, N-glycan, Female, Adolescent, Biology, Cell Line, 03 medical and health sciences, Polysaccharides, alpha-Mannosidase, Intellectual Disability, Report, Genetics, medicine, Humans, Proteostasis Deficiencies, Gene, Alleles, Glycoproteins, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Endoplasmic reticulum, Calcium-Binding Proteins, Infant, medicine.disease, Molecular biology, carbohydrates (lipids), Dysmorphism, chemistry, Mutation, Unfolded protein response, High-mannose, CDG, EDEM3, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de7e535ef91859e8db4ea8ac1e4f021
https://doi.org/10.1016/j.ajhg.2021.05.010

المؤلفون: Ran Barzilay, Ruben C. Gur, Lauren K. White, Doron Gothelf, Donna M. McDonald-McGinn, Raquel E. Gur, Shachar Shani, Tyler M. Moore, Elaine H. Zackai, Ronnie Weinberger, Noam Matalon, Beverly S. Emanuel

المصدر: Journal of Psychiatric Research. 138:319-325

مصطلحات موضوعية: Population, Psychological intervention, Marfan Syndrome, 03 medical and health sciences, 0302 clinical medicine, DiGeorge Syndrome, medicine, Humans, Israel, Resilience (network), education, Biological Psychiatry, Depression (differential diagnoses), education.field_of_study, Reproducibility of Results, 030227 psychiatry, Arachnodactyly, Psychiatry and Mental health, Peer victimization, Anxiety, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Intrapersonal communication, Psychopathology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97f0461d14d855081e5abbc10f3c416d
https://doi.org/10.1016/j.jpsychires.2021.03.058

المؤلفون: Donna M. McDonald-McGinn, Raquel E. Gur, Nickole Kanyuch, Jorge I. Alvarez, Hania Kebir, James Gesualdi, Caroline Canning, Angela N. Viaene, Guadalupe Ceja, Stewart A. Anderson, Richa Kapoor, Sean K. Ryan, Elaine H. Zackai, Alexis M. Crockett, Adriana Hernandez Vasquez, Naïl Benallegue

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, 22q11 Deletion Syndrome, Endothelium, Intercellular Adhesion Molecule-1, Immune Privilege, Blood–brain barrier, Proinflammatory cytokine, Mice, 03 medical and health sciences, 0302 clinical medicine, Immune privilege, Report, medicine, Animals, Humans, Induced pluripotent stem cell, Neuroinflammation, Inflammation, business.industry, 030104 developmental biology, medicine.anatomical_structure, Blood-Brain Barrier, Astrocytes, Immunology, Neurology (clinical), business, 030217 neurology & neurosurgery, Astrocyte

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6188112643b07c836636194bd36073e
https://doi.org/10.1093/brain/awab055

المؤلفون: Therese van Amelsvoort, Eva W.C. Chow, Marianne Bernadette van den Bree, Paul M. Thompson, Wendy R. Kates, Jacob A. S. Vorstman, Nancy J. Butcher, Julio E Villalon Reina, Clodagh M. Murphy, Eileen Daly, Ania Fiksinski, Donna M. McDonald-McGinn, Raquel E. Gur, Wanda Fremont, David Edmund Johannes Linden, Daqiang Sun, Courtney A. Durdle, Rachel K. Jonas, Hayley Moss, Kosha Ruparel, Tony J. Simon, Nicolas Crossley, J. Eric Schmitt, David R. Roalf, Michael John Owen, Kevin M. Antshel, Sanne Koops, Linda E. Campbell, Beverly S. Emanuel, Anjanibhargavi Ragothaman, Maria Jalbrzikowski, Amy Lin, Kieran C. Murphy, Maria Gudbrandsen, Anne S. Bassett, Ariana Vajdi, T. Blaine Crowley, Dmitry Isaev, Joanne L. Doherty, Boris A. Gutman, Carrie E. Bearden, Kathryn McCabe, Naomi J. Goodrich-Hunsaker, Fidel Vila-Rodriguez, Laura Pacheco-Hansen, Artemis Zavaliangos-Petropulu, Christopher R.K. Ching, Elaine H. Zackai, Geor Bakker, Jennifer K. Forsyth, Adam C. Cunningham, Gabriela M. Repetto, Leila Kushan, Declan G. Murphy, Michael C. Craig

المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9)

المصدر: American Journal of Psychiatry, 177(7), 589-600. American Psychiatric Publishing, Inc.
The American journal of psychiatry, vol 177, iss 7
Ching, C R K, Gutman, B A, Sun, D, Villalon Reina, J, Ragothaman, A, Isaev, D, Zavaliangos-petropulu, A, Lin, A, Jonas, R K, Kushan, L, Pacheco-hansen, L, Vajdi, A, Forsyth, J K, Jalbrzikowski, M, Bakker, G, Van Amelsvoort, T, Antshel, K M, Fremont, W, Kates, W R, Campbell, L E, Mccabe, K L, Craig, M C, Daly, E, Gudbrandsen, M, Murphy, C M, Murphy, D G, Murphy, K C, Fiksinski, A, Koops, S, Vorstman, J, Crowley, T B, Emanuel, B S, Gur, R E, Mcdonald-mcginn, D M, Roalf, D R, Ruparel, K, Schmitt, J E, Zackai, E H, Durdle, C A, Goodrich-hunsaker, N J, Simon, T J, Bassett, A S, Butcher, N J, Chow, E W C, Vila-rodriguez, F, Cunningham, A, Doherty, J, Linden, D E, Moss, H, Owen, M J, Van Den Bree, M, Crossley, N A, Repetto, G M, Thompson, P M & Bearden, C E 2020, ' Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome : Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness ', American Journal of Psychiatry, vol. 177, no. 7, pp. 589-600 . https://doi.org/10.1176/appi.ajp.2019.19060583
Am J Psychiatry

مصطلحات موضوعية: Male, Neurodevelopment, Physiology, CHILDREN, Copy Number Variant, Brain mapping, Medical and Health Sciences, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Child, Psychiatry, Brain Mapping, Putamen, Mental Disorders, Brain, MOUSE MODEL, Middle Aged, Serious Mental Illness, Magnetic Resonance Imaging, Psychiatry and Mental health, medicine.anatomical_structure, Mental Health, Schizophrenia, Major depressive disorder, Female, BEHAVIOR, Adult, Psychosis, SCHIZOPHRENIA SPECTRUM, CORTEX, Adolescent, DISORDERS, Clinical Trials and Supportive Activities, Amygdala, Article, 03 medical and health sciences, Young Adult, Neuroimaging, Clinical Research, 22q11.2 Deletion Syndrome, medicine, DiGeorge Syndrome, Humans, Bipolar disorder, DOSAGE, business.industry, Psychology and Cognitive Sciences, Neurosciences, Hypertrophy, medicine.disease, 030227 psychiatry, Brain Disorders, Neuroanatomy, Psychotic Disorders, MORPHOMETRY, Case-Control Studies, VOLUME, Atrophy, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5952af50f7d053fd79cb45c547512a4a
https://doi.org/10.1176/appi.ajp.2019.19060583

المؤلفون: Margaret C. Souders, Lisa D. Wiggins, Nicole F. Dowling, Naomi Meeks, Ellen R. Elias, Stuart K. Shapira, Lin H. Tian, Aimee Alexander, Laura A. Schieve, Patricia M. Dietz, Julie Hoover-Fong, Marshalyn Yeargin-Allsopp, Anne C.-H. Tsai, Arthur S. Aylsworth, Elaine H. Zackai

المصدر: Autism Res

مصطلحات موضوعية: Male, genetic structures, Autism Spectrum Disorder, Population, Family income, behavioral disciplines and activities, Article, 03 medical and health sciences, Cognition, 0302 clinical medicine, Intellectual Disability, mental disorders, Intellectual disability, medicine, Humans, 0501 psychology and cognitive sciences, Cognitive skill, Association (psychology), education, Genetics (clinical), education.field_of_study, General Neuroscience, 05 social sciences, medicine.disease, Autism spectrum disorder, Child, Preschool, Premature Birth, Autism, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1262d915122b5286c6375f862f0a5490
https://doi.org/10.1002/aur.2314

المؤلفون: Sangmoon Lee, Ryojun Takeda, Nataliya Di Donato, Masashige Bando, Darina Prchalova, Mathieu Quesnel-Vallières, Seiji Mizuno, Naomichi Matsumoto, Koji Masuda, Miroslava Hancarova, Margaret Harr, Karl Hackmann, Zdenek Sedlacek, Alica Valachova, Alyssa Ritter, Eriko Nishi, Tommaso Pippucci, Michiko Arakawa, Katsuhiko Shirahige, Katsunori Fujiki, Elaine H. Zackai, Noriko Miyake, Marketa Vlckova, Ryuichiro Nakato, Aiko Iwata-Otsubo, Yoseph Barash, Christoph Seiler, Dong Li, Beth Keena, Nobuhiko Okamoto, Kosuke Izumi, Jung Min Ko, Sarah K. Fiordaliso, Elizabeth J. Bhoj, Hakon Hakonarson, Murim Choi, Jenny Morton

المصدر: Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Mutation, Missense, Down-Regulation, Biology, Histone Deacetylases, Transcriptome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genes, X-Linked, Report, Genetics, Transcriptional regulation, Animals, Humans, Missense mutation, Cognitive Dysfunction, Amino Acid Sequence, Gene, Zebrafish, Genetics (clinical), X chromosome, Spliceosomal complex, Exons, biology.organism_classification, Repressor Proteins, 030104 developmental biology, Gene Expression Regulation, Sequence Alignment, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e482e0e75fe75f8dd9e62c99c9b3fb4
https://doi.org/10.1016/j.ajhg.2019.09.009

المؤلفون: Oanh Tran, Stewart A. Anderson, Beverly S. Emanuel, T. Blaine Crowley, Elaine H. Zackai, Douglas C. Wallace, Jianping Li, Donna M. McDonald-McGinn, Raquel E. Gur, Tyler M. Moore

المصدر: JAMA Psychiatry

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Induced Pluripotent Stem Cells, Context (language use), Penetrance, Mitochondrion, Cell Line, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Downregulation and upregulation, Risk Factors, Internal medicine, medicine, DiGeorge Syndrome, Humans, Gene, Original Investigation, Neurons, Organelle Biogenesis, business.industry, medicine.disease, 030227 psychiatry, Mitochondria, Psychiatry and Mental health, Endocrinology, Mitochondrial biogenesis, Gene Expression Regulation, Schizophrenia, Case-Control Studies, Female, business, 030217 neurology & neurosurgery, Diagnosis of schizophrenia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce58380b4bafcf7dab12a3521d6afd
https://pubmed.ncbi.nlm.nih.gov/34009292

المؤلفون: Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song

المساهمون: unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Sainte Justine [Montréal], Université du Québec à Montréal = University of Québec in Montréal (UQAM), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Mayo Clinic [Rochester], University of California [San Francisco] (UCSF), University of California, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang Bretagne, EFS, Hôpital de la Cavale Blanche - CHRU Brest (CHU - BREST ), Johns Hopkins University School of Medicine [Baltimore], Kennedy Krieger Institute [Baltimore], Chapel Allerton Hospital, University of British Columbia (UBC), University of Dundee, Rush University Medical Center [Chicago], Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital (Glasgow), Trondheim University, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University of Virginia [Charlottesville], Texas Children's Hospital [Houston, USA], Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania [Philadelphia], National Human Genome Research Institute (NHGRI), Harvard Medical School [Boston] (HMS), Karolinska University Hospital [Stockholm], Duke University Medical Center, University of Groningen [Groningen], University of Arkansas for Medical Sciences (UAMS), McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Phoenix Children's Hospital, Columbia University [New York], University of Southern Queensland (USQ), Telemark Hospital Trust [Skien, Norway], University of Washington [Seattle], Oslo University Hospital [Oslo], Children’s Hospital of Philadelphia (CHOP ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Radboud University Medical Center [Nijmegen], Ann & Robert H. Lurie Children's Hospital of Chicago, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Poitiers (CHU Poitiers), University of Alberta, Boston Children's Hospital, McGill University Health Center [Montreal] (MUHC), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Creighton University Medical School [Omaha, NE, USA], Howard Hughes Medical Institute [Boston] (HHMI), Howard Hughes Medical Institute (HHMI)-Harvard Medical School [Boston] (HMS), National Institute of Neurological Disorders and Stroke, K08 HG008986, National Human Genome Research Institute, BC Children’s Hospital Foundation, Genome British Columbia, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research, Center for Individualized Medicine, Mayo Clinic, Health Regional Agency from Poitou-Charentes, French Ministry of Health, RC14_0107, HUGODIMS, NS053998, The Epilepsy Phenome/Genome Project, NS077303, Epi4K, Duke Genome Sequencing Clinic, NINDS R35 NS105078, National Institutes of Health/Eunice Kennedy Shriver National Institute of Child Health and Human Development, HG200328 12, intramural research program of the NHGRI, Dart NeuroScience, Kids Brain Health Network, Mining for Miracles, UM1 HG006542, National Heart, Lung, and Blood Institute, CIM Investigative and Functional Genomics Program, R01MH101221, National Institute of Mental Health, Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), University of Oxford, University of California [San Francisco] (UC San Francisco), University of California (UC), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Virginia, University of Pennsylvania, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), CCSD, Accord Elsevier, Faculteit Medische Wetenschappen/UMCG, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3

مصطلحات موضوعية: CHROMATIN, Male, 0301 basic medicine, Autism, Sequence Homology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical and Health Sciences, 0302 clinical medicine, SCHIZOPHRENIA, Gene expression, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, de novo variants, Genetics (clinical), Pediatric, Genetics & Heredity, Genetics, biology, neurodevelopmental disorders, histone acetylation, Adaptor Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Biological Sciences, Prognosis, Phenotype, Chromatin, Mental Health, Histone, intellectual disability, Child, Preschool, Female, REGULATOR, congenital malformations, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], BRAIN-DEVELOPMENT, Adult, Adolescent, Histone acetyltransferase complex, Intellectual and Developmental Disabilities (IDD), Mutation, Missense, Deciphering Developmental Disorders study, autism spectrum disorder, KAT6B, RNAI SCREEN, Young Adult, 03 medical and health sciences, CAUSES Study, Rare Diseases, Intellectual Disability, Report, COFACTOR, medicine, RUBINSTEIN-TAYBI-SYNDROME, Humans, Amino Acid Sequence, Autistic Disorder, Preschool, Gene, Genetic Association Studies, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Signal Transducing, Neurosciences, Infant, medicine.disease, TRRAP, Brain Disorders, SELF-RENEWAL, 030104 developmental biology, DE-NOVO MUTATIONS, Mutation, biology.protein, Missense, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b42ef2b2b430d69e0a64d8edee87da3
https://doi.org/10.1016/j.ajhg.2019.01.010

المؤلفون: Laura A. Schieve, Stuart K. Shapira, Marshalyn Yeargin-Allsopp, Aimee Alexander, Arthur S. Aylsworth, Ellen R. Elias, Anne C.-H. Tsai, Elaine H. Zackai, Naomi Meeks, Margaret C. Souders, Lin H. Tian, Julie Hoover-Fong

المصدر: J Autism Dev Disord

مصطلحات موضوعية: Male, Race ethnicity, genetic structures, Autism Spectrum Disorder, Population, Ethnic group, behavioral disciplines and activities, Article, Craniofacial Abnormalities, 03 medical and health sciences, Child Development, 0302 clinical medicine, mental disorders, Ethnicity, Developmental and Educational Psychology, medicine, Humans, 0501 psychology and cognitive sciences, Child, education, education.field_of_study, 05 social sciences, Facies, medicine.disease, Phenotype, Child development, Autism spectrum disorder, Child, Preschool, Autism, Female, Racial differences, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cad9b071d4c621fe5eb7000f9079dfbd
https://doi.org/10.1007/s10803-019-03899-0

المؤلفون: Terrence B. Crowley, Elaine H. Zackai, Madeline Chadehumbe, Sarah Hopkins, Donna M. McDonald-McGinn, Larissa T. Bilaniuk

المصدر: American Journal of Medical Genetics Part A. 176:2140-2145

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Movement disorders, CHOP, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neuroimaging, DiGeorge Syndrome, Genetics, Polymicrogyria, Humans, Medicine, 0501 psychology and cognitive sciences, Deletion syndrome, Tethered Cord, Genetics (clinical), business.industry, 05 social sciences, Cortical malformations, medicine.disease, Magnetic Resonance Imaging, Nervous System Diseases, medicine.symptom, business, 030217 neurology & neurosurgery, 050104 developmental & child psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2269137e2611798e8bb0023d34ccc38
https://doi.org/10.1002/ajmg.a.38614