نتائج البحث - "Lior, Cohen"

1

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child

المؤلفون: Lior Cohen, Shirel Weiss, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, Miriam Ehrenberg

المصدر: Ophthalmic Genetics. 40:7-11

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac47a0e273b36111645282dc1ab0456dTest
https://doi.org/10.1080/13816810.2018.1561900Test

2

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

المؤلفون: Yael Mozer, Irit Krause, Lily Bazak, Lior Cohen, Shay Tzur, Lina Basel Salmon, Danielle Haguel, Adi Shohet, Noam Shomron

المصدر: European Journal of Human Genetics. 27:263-268

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::496f225af0e4ab6c12328a4bc2b2b14eTest
https://doi.org/10.1038/s41431-018-0268-2Test

3

المؤلفون: Marie Falkenberg Smeland, Alina Kurolap, Michael J. Gambello, Ariel F. Martinez, Livija Medne, Melita Irving, Elizabeth Roeder, Holly Dubbs, Robert M. Petrovich, Elaine H. Zackai, Motoki Takaku, Kimberly Nugent, Bruce D. Gelb, Peter D. Turnpenny, Michael Parker, Maximilian Muenke, Thomas Smol, Arie van Haeringen, Hanne Hove, Hitoshi Kurumizaka, Sandra Whalen, Boris Keren, Philippe M. Campeau, Samantha A. Schrier Vergano, Lior Cohen, Pauline Terhal, Amy Kenney, Paul A. Wade, Jill Clayton-Smith, Jamal Ghoumid, Shane C. Quinonez, John Roberts, Katherine Lachlan, Mahim Jain, Estelle Colin, Melissa Rumple, Solveig Heide, Kay Metcalfe, Alban Ziegler, Hayley P. Lazar, Elizabeth T. DeChene, Cara M. Skraban, Michael Wright, Karin Weiss, Danielle Monteil, Tamar Paperna, Avni Santani, Hagit Baris Feldman, Bryan L. Krock

المساهمون: Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, 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), Kennedy Krieger Institute [Baltimore], Department of Pediatrics, The University of Texas at San Antonio (UTSA), Universiteit Leiden [Leiden], Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Children’s Hospital of Philadelphia (CHOP ), Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Ethox Centre, Department of Public Health and Primary Health Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, University of Manchester [Manchester], Central Manchester University Hospitals NHS Foundation Trust, Waseda University, CHU Sainte Justine [Montréal], Cancer Genetics Branch, National Institute of Health (NIH)-National Human Genome Research Institute (NHGRI), Southampton General Hospital

المصدر: Genetics in Medicine, 22(2), 389-397. NATURE PUBLISHING GROUP
Genetics in Medicine
Genetics in Medicine, 2019, Non spécifié. ⟨10.1038/s41436-019-0612-0⟩
Genet Med

مصطلحات موضوعية: 0301 basic medicine, Male, [SDV]Life Sciences [q-bio], Developmental Disabilities, 030105 genetics & heredity, chromatin remodeling, 12p13, Neurodevelopmental disorder, Intellectual disability, Missense mutation, Global developmental delay, Child, Genetics (clinical), Genetics, Syndrome, Phenotype, 3. Good health, intellectual disability, Child, Preschool, Female, medicine.symptom, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Adult, Heart Defects, Congenital, missense, Adolescent, Genotype, Mutation, Missense, Biology, Chromatin remodeling, Article, 12p13.31, 03 medical and health sciences, medicine, Humans, ATPase, Abnormalities, Multiple, Hearing Loss, Genetic Association Studies, Macrocephaly, Infant, Newborn, Infant, medicine.disease, Chromatin Assembly and Disassembly, Human genetics, Megalencephaly, Musculoskeletal Abnormalities, 030104 developmental biology, Neurodevelopmental Disorders, Transcription Factors