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1دورية أكاديمية
المؤلفون: Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora M. Taylor, Wendy K. Chung
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101845- (2024)
مصطلحات موضوعية: Autism, Genetic neurodevelopmental disorders, Variant interpretation, Variant pathogenicity, Variants of uncertain significance, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michelle Kowanda, Katina Calakos, LeeAnne Green Snyder, Catherine Kentros, Jennifer Bain, Siddharth Srivastava, Tristan Sands, Gerhard Schratt, Cora Taylor, Wendy Chung
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101049- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros, Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora Taylor, Wendy Chung
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101518- (2024)
وصف الملف: electronic resource
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المؤلفون: Rebecca Fenster, Alban Ziegler, Catherine Kentros, Alexa Geltzeiler, LeeAnne Green Snyder, Elizabeth Brooks, Wendy K. Chung
المصدر: American Journal of Medical Genetics Part A. 188:1954-1963
مصطلحات موضوعية: Phenotype, Autism Spectrum Disorder, Intellectual Disability, Microcephaly, Genetics, Humans, Haploinsufficiency, Syndrome, Protein Serine-Threonine Kinases, Protein-Tyrosine Kinases, Child, Genetics (clinical)
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5
المؤلفون: Wendy K. Chung, Alexa R. Geltzeiler, Ashley Kahen, LeeAnne Green Snyder, Catherine Kentros, Cora Taylor, Elizabeth Brooks, Haluk Kavus
المصدر: Journal of Medical Genetics. 59:536-543
مصطلحات موضوعية: Genetics, Synaptic cleft, Biology, medicine.disease, Hypotonia, Vineland Adaptive Behavior Scale, Epilepsy, Autism spectrum disorder, Speech delay, Intellectual disability, medicine, medicine.symptom, Genetics (clinical), Exome sequencing
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6
المؤلفون: Simone Smith, Amy M. Daniels, Rebecca Smith, Cora Taylor, Jennifer Tjernagel, Christopher Lehman, L. Casey White, Lee Anne Green Snyder, Katharine Diehl, W Curtis Weaver, William Jensen, Lindsey A. Cartner, Kaitlyn Singer, Alexa R. Geltzeiler, Michelle Kowanda, Alison R. Marvin, Natalie Nagpal, J. Kiely Law, Elizabeth Brooks, Lauren Kasparson Walsh, Catherine Kentros, Caroline Mebane, Ashley Wilson, Wendy K. Chung
المصدر: Journal of Child Neurology
مصطلحات موضوعية: Gerontology, Adult, Male, Coronavirus disease 2019 (COVID-19), Adolescent, telehealth, Caregiver Burden, autism, COVID-19 pandemic, Telehealth, Computer-assisted web interviewing, Health Services Accessibility, Article, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Surveys and Questionnaires, Pandemic, caregiver stress, medicine, Humans, Child, Pandemics, Medical systems, neurogenetic, SARS-CoV-2, COVID-19, Caregiver burden, Feeling stressed, Caregivers, Neurodevelopmental Disorders, Child, Preschool, Health Care Surveys, Pediatrics, Perinatology and Child Health, Anxiety, Female, Neurology (clinical), medicine.symptom, Psychology, 030217 neurology & neurosurgery, Needs Assessment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9015641e0ee0a2f51ef381d8de84e9dd
https://pubmed.ncbi.nlm.nih.gov/33829918 -
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المؤلفون: Ashley, Kahen, Haluk, Kavus, Alexa, Geltzeiler, Catherine, Kentros, Cora, Taylor, Elizabeth, Brooks, LeeAnne, Green Snyder, Wendy, Chung
المصدر: Journal of medical genetics. 59(6)
مصطلحات موضوعية: GABA Plasma Membrane Transport Proteins, Phenotype, Autism Spectrum Disorder, Neurodevelopmental Disorders, Seizures, Intellectual Disability, Humans, Language Development Disorders, gamma-Aminobutyric Acid
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8
المؤلفون: Elaine M. Pereira, Priyanka Ahimaz, Carli Andrews, Kwame Anyane-Yeboa, Todor Arsov, Sara M. Berger, Ilana Chilton, Diana M. Cory, Wendy K. Chung, Katia R. Dergham, Michele M. Disco, Michelle E. Ernst, Tamar Forman, Stephanie Galloway, Alexa R. Geltzeiler, Jessica L. Giordano, Emily Griffin, Edwin Guzman, Nina Harkavy, Rebecca Hernan, Anah K. Hetzler, Alejandro Iglesias, Rupinder Kakar, Catherine Kentros, Thandiwe C. Khonje, Carrie Koval, Elana Levinson, Scott Robinson, Meredith J. Ross, Fatema Sadeque-Iqbal, Erica Spiegel, Elana Spitz, Ronald J. Wapner
المصدر: Genetics in Medicine
مصطلحات موضوعية: medicine.medical_specialty, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Genetics, Medical, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Comment, New York, COVID-19, Family medicine, medicine, Humans, Center (algebra and category theory), Genetics(clinical), business, Genetics (clinical)