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1دورية أكاديمية
المؤلفون: Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer
المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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المؤلفون: Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
المصدر: Journal of Medical Genetics. 60:523-532
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Mustafa Sahin, Jacob A. S. Vorstman, Delnaz Roshandel, Alana Iaboni, Iva Pritišanac, Richard Delorme, Stephen W. Scherer, Marjolaine Willems, Mehdi Zarrei, Lynette Lau, Jennifer L. Howe, Alan M. Moses, Evdokia Anagnostou, Brianna Godlewski, Livia O Loureiro, Miriam S. Reuter, Julie D. Forman-Kay, Anne-Claude Tabet, Siddharth Srivastava, Brett Trost, Suzanne M E Lewis, Christian R. Marshall, Olivia Rennie, Thomas W. Frazier, Peter Szatmari, Thomas Bourgeron, Elizabeth D. Buttermore, Kristina Calli, Stelios Georgiades, Amélie Piton, Dean Hartley, Clarrisa A Lisa Bradley, James Lespinasse, Serge Lumbroso
المساهمون: The Hospital for sick children [Toronto] (SickKids), Holland Bloorview Kids Rehabilitation Hospital [Toronto, ON, Canada], University of British Columbia (UBC), University of Toronto, Department of Biochemistry [University of Toronto], Harvard Medical School [Boston] (HMS), John Carroll University, McMaster University [Hamilton, Ontario], Centre for Addiction and Mental Health [Toronto] (CAMH), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Métropole Savoie [Chambéry], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), 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)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), CHU Strasbourg, This work was funded by Autism Speaks, Autism Speaks Canada, the University of Toronto McLaughlin Centre, the Canada Foundation for Innovation, the Canadian Institutes of Health Research (CIHR), Genome Canada/Ontario Genomics Institute, the Government of Ontario, Brain Canada, Ontario Brain Institute Province of Ontario Neurodevelopmental Disorders (POND), and The Hospital for Sick Children Foundation. L.O.L holds Lap-Chee Tsui Postdoctoral Fellowship from The Hospital for Sick Children. S.W.S holds the Northbridge Chair in Paediatric Research at the Hospital for Sick Children and University of Toronto., Retiveau, Nolwenn
المصدر: NPJ Genomic Medicine
npj Genomic Medicine
npj Genomic Medicine, 2021, 6 (1), pp.91. ⟨10.1038/s41525-021-00254-0⟩
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: Proband, Genetic counseling, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, QH426-470, Biology, behavioral disciplines and activities, Article, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, mental disorders, Gene duplication, Genetics, medicine, Copy-number variation, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, medicine.disease, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, Medicine, Medical genomics, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Sally Martell, Ying Qiao, Evica Rajcan-Separovic, Kristina Calli, Simone Race, Stephen W. Scherer, Jasleen Dhaliwal, Armansa Glodjo, Steven J.M. Jones, Chieko Chijiwa, Suzanne M E Lewis
المصدر: Genes, Vol 12, Iss 1053, p 1053 (2021)
Genes
Volume 12
Issue 7مصطلحات موضوعية: 0301 basic medicine, Male, RELN gene, Adolescent, Autism Spectrum Disorder, complex genetics, Nerve Tissue Proteins, Quantitative trait locus, Biology, QH426-470, Compound heterozygosity, whole-genome sequencing (WGS), gene variants, Article, Synapse, NAV1.8 Voltage-Gated Sodium Channel, 03 medical and health sciences, Autism Spectrum Disorder (ASD), 0302 clinical medicine, Neurodevelopmental disorder, mental disorders, medicine, Genetics, Humans, Genetic Predisposition to Disease, SHANK2 gene, Child, Gene, Genetics (clinical), Whole Genome Sequencing, Siblings, medicine.disease, quantitative trait hypothesis, Chromatin, SHANK2, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Suzanne M E Lewis, Leah Tooman, Horacio Osiovich, Margot I. Van Allen, Linlea Armstrong, Harinder Gill, Jan M. Friedman, Jan Christilaw, Millan S. Patel, Ilaria Guella, Lorne A. Clarke, Matthew J. Farrer, Tara Candido, Anna Lehman, Anne Synnes, Alfonso Solimano, Daniel M. Evans, Joseph Ting, Margaret L. McKinnon, Christèle du Souich, William T. Gibson, Sarah M. Nikkel, Alison M. Elliott, Pascal M. Lavoie
المصدر: European Journal of Pediatrics. 178:1207-1218
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, Critical Illness, Genetic counseling, Clinical Decision-Making, Genetic Counseling, Pilot Projects, Genome, 03 medical and health sciences, Health services, 0302 clinical medicine, Intensive Care Units, Neonatal, 030225 pediatrics, Intensive care, Outcome Assessment, Health Care, Exome Sequencing, Humans, Medicine, Genetic Testing, 030212 general & internal medicine, Exome sequencing, business.industry, Patient Selection, Genetic Diseases, Inborn, Infant, Newborn, Microarray Analysis, Infant mortality, Preliminary diagnosis, Pediatrics, Perinatology and Child Health, Intensive Care, Neonatal, Female, business
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المؤلفون: Laura Arbour, Suzanne M E Lewis, Sally Martell, Mary B. Connolly, Hani Bagheri, Ying Qiao, Wendy P. Robinson, Flamingo Tang, Evica Rajcan-Separovic, Chansonette Badduke
المصدر: European Journal of Medical Genetics. 62:103-108
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Heterozygote, Developmental Disabilities, Mutation, Missense, 030105 genetics & heredity, Biology, DNA sequencing, Craniofacial Abnormalities, 03 medical and health sciences, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Genetics (clinical), X chromosome, Exome sequencing, Chromosomes, Human, X, Genetic Diseases, X-Linked, Syndrome, General Medicine, Hypotonia, DNA-Binding Proteins, Phenotype, 030104 developmental biology, medicine.symptom, Transcription Factors
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المؤلفون: Suzanne M E Lewis, Sally Martell, Chansonette Badduke, Wendy P. Robinson, Evica Rajcan-Separovic, Flamingo Tang, David Cowieson, Maria S. Peñaherrera, Allen Volchuk, Ying Qiao
المصدر: American Journal of Medical Genetics Part A. 173:1782-1791
مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, In silico, Biology, Phenotype, DNA sequencing, X-inactivation, 03 medical and health sciences, 030104 developmental biology, Gene duplication, Gene, Genetics (clinical), Exome sequencing
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المؤلفون: Saskia M. Maas, Irene Madrigal, David A. Sweetser, I. M. Krzyzewska, Hyung-Goo Kim, Anna Chassevent, Hirotomo Saitsu, Peter Henneman, E. Rajcan-Separovic, Erfan Aref-Eshghi, Marielle Alders, Sonal Mahida, Audrey Labalme, T. Fukuda, Marie-Line Jacquemont, Karin van der Lip, Raquel Rabionet, Bekim Sadikovic, Suzanne M E Lewis, Marcel M.A.M. Mannens, Andrea Venema, A. J. van Essen, Gaetan Lesca, H. Ikeda, Naomichi Matsumoto, Ying Qiao, Kristin W. Barañano
المساهمون: ARD - Amsterdam Reproduction and Development, Human Genetics, ACS - Pulmonary hypertension & thrombosis, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: CLINICAL EPIGENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Clinical epigenetics, 11(1). Springer Verlag
Clinical Epigenetics, 11(1):156. BMC
Paediatrics Publications
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Epigeneticsمصطلحات موضوعية: Male, Jumonji Domain-Containing Histone Demethylases, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Diseases, Anxiety, VARIANTS, Epigenesis, Genetic, SETD1B, 0302 clinical medicine, Loss of Function Mutation, Histone methyltransferase complex, Child, Genetics (clinical), Genetics, 0303 health sciences, Chromatin, LINKING, Child, Preschool, DNA methylation, Female, Adult, Genetic Markers, Adolescent, Biology, DIAGNOSIS, 12Q24.31, 03 medical and health sciences, Histone H3, BECKWITH-WIEDEMANN SYNDROME, Humans, MICRODELETION, Epigenetics, Molecular Biology, Gene, Loss function, 030304 developmental biology, Epilepsy, Research, F-Box Proteins, Infant, Newborn, Histone-Lysine N-Methyltransferase, DNA Methylation, Expressió gènica, Human genetics, Malalties, CpG Islands, Gene expression, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: David S. Wishart, Bojana Rakic, Casper Shyr, Rupasri Mandal, Maja Tarailo-Graovac, Andre Mattman, Cristina Skrypnyk, Patrice Eydoux, Paul Shekel, Majid Alfadhel, Stuart E. Turvey, Janis M. Dionne, Hilary Vallance, Michelle Demos, A. Mark Evans, Colin J. D. Ross, Anna Lehman, Matthias R. Baumgartner, Jacob Rozmus, Bryan Sayson, Jan M. Friedman, Margaret L. McKinnon, Andrea Superti-Furga, Leo A. J. Kluijtmans, Britt I. Drögemöller, Kathryn Selby, Mary B. Connolly, Gabriella Horvath, Daniel Metzger, Kirk R. Schultz, John K. Wu, Ian Garber, Linlea Armstrong, Jessie M. Cameron, Ramona Salvarinova, Clara D.M. van Karnebeek, Dimitrios I. Zafeiriou, Jiqiang Ling, Ron A. Wevers, Lin Hua Zhang, Jiang Wu, Oluseye A. Ogunbayo, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Suzanne M E Lewis, Margot I. Van Allen, Jessica J. Y. Lee, Wyeth W. Wasserman, Mena Abdelsayed, Peter C. Ruben, Patricie Burda, Aspasia Michoulas, Sandra Sirrs, Saikat Santra, Xin C. Ye, Tammie Dewan, Amit P. Bhavsar
المساهمون: Other departments
المصدر: The New England Journal of Medicine, 374, 2246-2255
Tarailo-Graovac, M, Shyr, C, Ross, C J, Horvath, G A, Salvarinova, R, Ye, X C, Zhang, L-H, Bhavsar, A P, Lee, J J Y, Drögemöller, B I, Abdelsayed, M, Alfadhel, M, Armstrong, L, Baumgartner, M R, Burda, P, Connolly, M B, Cameron, J, Demos, M, Dewan, T, Dionne, J, Evans, A M, Friedman, J M, Garber, I, Lewis, S, Ling, J, Mandal, R, Mattman, A, McKinnon, M, Michoulas, A, Metzger, D, Ogunbayo, O A, Rakic, B, Rozmus, J, Ruben, P, Sayson, B, Santra, S, Schultz, K R, Selby, K, Skehel, P, Sirrs, S, Skrypnyk, C, Superti-Furga, A, Turvey, S E, Van Allen, M I, Wishart, D, Wu, J, Wu, J, Zafeiriou, D, Kluijtmans, L, Wevers, R A, Eydoux, P, Lehman, A M, Vallance, H, Stockler-Ipsiroglu, S, Sinclair, G, Wasserman, W W & van Karnebeek, C D 2016, ' Exome Sequencing and the Management of Neurometabolic Disorders ', New England Journal of Medicine, vol. 374, no. 23, pp. 2246-2255 . https://doi.org/10.1056/NEJMoa1515792
New England journal of medicine, 374(23), 2246-2255. Massachussetts Medical Society
The New England Journal of Medicine, 374, 23, pp. 2246-2255مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Genotype, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Bioinformatics, 03 medical and health sciences, Young Adult, Intellectual Disability, Intellectual disability, Medicine, Humans, Exome, Genetic Testing, Child, Exome sequencing, Genetic testing, Genetics, medicine.diagnostic_test, business.industry, Infant, General Medicine, Sequence Analysis, DNA, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Phenotype, Developmental disorder, 030104 developmental biology, Child, Preschool, Female, business, Metabolism, Inborn Errors
وصف الملف: application/pdf
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المؤلفون: Mark O'Driscoll, Anna Lehman, Xianghong Shan, Bruno Maranda, Cheryl Y. Gregory-Evans, Małgorzata J.M. Nowaczyk, Ying Qiao, Chansonette Badduke, Rita Colnaghi, Jiadi Wen, Robert S. Wildin, Jennifer Eichmeyer, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Suzanne M E Lewis, Sally Martell, Hani Bagheri, Evica Rajcan-Separovic
المصدر: JCI Insight, Vol 1, Iss 3 (2016)
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Microcephaly, Adolescent, Developmental Disabilities, Receptors, Cytoplasmic and Nuclear, lcsh:Medicine, Chromosome Disorders, Biology, Karyopherins, 03 medical and health sciences, medicine, Genetics, Animals, Humans, Abnormalities, Multiple, Child, Zebrafish, Gene knockdown, lcsh:R, Infant, Nuclear Proteins, General Medicine, Microdeletion syndrome, biology.organism_classification, medicine.disease, Phenotype, 2p15p16.1 microdeletion syndrome, Hypotonia, Proto-Oncogene Proteins c-rel, Repressor Proteins, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Gene Knockdown Techniques, Female, medicine.symptom, Chromosome Deletion, Carrier Proteins, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b7532381a8d11011885c4a207a5a03a
https://doaj.org/article/4928b23f9d06473387f5ea616f81a7df
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