المؤلفون: Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon, Tzipora Falik-Zaccai, Alexander Kaplun

المصدر: BMC Genomics, Vol 20, Iss S8, Pp 1-8 (2019)

مصطلحات موضوعية: Whole genome sequencing, Structural variants, Clinical validation, Pipeline, Diagnostic console, WGS, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12864-019-5866-zTest; https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/9a0c97533baa40f6aab3c0acdbe6068cTest

المؤلفون: Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100014- (2021)

مصطلحات موضوعية: POLR2A, Pol II, RNA polymerase II, Mendelian disease, developmental disorder, phenotypic expansion, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247720300142Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/469ff01f4ca548e4a1adff79415aecc4Test

المؤلفون: Natalie J. Nokoff, Sharon Travers, Naomi Meeks

المصدر: AIMS Genetics, Vol 2, Iss 2, Pp 104-109 (2015)

مصطلحات موضوعية: disorders of sex development, androgen insensitivity, partial androgen insensitivity, mosaicism, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.aimspress.com/Genetics/article/241/fulltext.htmlTest; https://doaj.org/toc/2377-1143Test

الوصول الحر: https://doaj.org/article/4eb2be7f157e4bcfad2b3b3d88bf662dTest

المؤلفون: Chen-Han Wilfred Wu, Jad Badreddine, Joshua Chang, Yu-Ren Mike Huang, Fernando J. Kim, Trevor Wild, Anne Tsai, Naomi Meeks, Rodrigo Donalisio Da Silva, Wilson R. Molina, Fredrick R. Schumacher

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39ed598e5ee3c3ea4e52fb5806a5b5b2Test
https://doi.org/10.1101/2023.05.09.23289733Test

المؤلفون: Katherine Bergstrom, Nichola Foulds, Yue Si, Anne Slavotinek, John Dean, Evan Reid, Ruth Armstrong, Charlotte W. Ockeloen, Richard Fisher, Maria J. Guillen Sacoto, Dayna Morel, Fowzan S. Alkuraya, Costa Cinzia, Thomas D. Challman, Samantha A. Schrier Vergano, Francisca Milan Zamora, Naomi Meeks, John Pappas, Katheryn Grand, Abhijit Dixit, Julie S. Cohen, Ddd Study, Marjolein H. Willemsen, Serwet Demirdas, Rachel Harrison, Usha Kini, Bertrand Isidor, Patricia Blanchet, Emily Palen, Arjan Bouman, Jagdeep S. Walia, Ruth Newbury-Ecob, Rachel Rabin, Shadi Albaba, Diana Johnson, Paolo Prontera, Paula Girotto, Ange-Line Bruel, Meena Balasubramanian, Nicola K. Ragge, Schaida Schirwani, Deborah L. Renaud, Christopher Cunniff, John M. Graham, Natalie Dykzeul, Swati Naik, Valerie Slegesky, Hessa F Albassam, Maria Giovanna Tedesco, Sally Ann Lynch, Julie Vogt, Natalie Hauser, Dong Li, Deanna Alexis Carere, Benjamin Cogné

المصدر: American Journal of Medical Genetics Part A. 185:3446-3458

مصطلحات موضوعية: Genetics, Biology, medicine.disease, Phenotype, Hypotonia, Natural history, Neurodevelopmental disorder, Intellectual disability, medicine, Missense mutation, Hypertelorism, medicine.symptom, Genetics (clinical), Sequence (medicine)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b74d3b97d70d41828d697cc1cbcc3cfdTest
https://doi.org/10.1002/ajmg.a.62465Test

المؤلفون: Nils D. Forkert, Naomi Meeks, Amanda B. Neves, Brenda McInnes, Nicole Tartaglia, Shanlee M Davis, Ophir D. Klein, Anne Slavotinek, J. David Aponte, Jared A. J. Spitzmacher, Nick Mahasuwan, Anh M. Pham, Emily A. McCourt, Danika M. Lipman, Jordan J. Bannister, Joseph T. Shieh, A. Robertson Harrop, Ellen R. Elias, Tracey M. Ferrara, David C. Katz, Robert W. Enzenauer, Tim A. Benke, Elias Aboujaoude, Laura Pickler, Richard A. Spritz, Gary Bellus, Jonathan A. Bernstein, Sheri L. Riccardi, Shawn E. McCandless, Jacinda R. Larson, Pedro A. Sanchez-Lara, J. Patrick H. Wyse, Kathryn C. Chatfield, Francois P. Bernier, Brooke French, Anne C.-H. Tsai, Benedikt Hallgrímsson, A. Micheil Innes

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 22, iss 10
Genetics in Medicine

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genetic syndromes, diagnosis, Clinical Sciences, deep phenotyping, Disease, 010603 evolutionary biology, 01 natural sciences, Article, Imaging, Congenital, 03 medical and health sciences, Imaging, Three-Dimensional, Clinical Research, syndromes, Genetics, medicine, Humans, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Genetics & Heredity, morphometrics, business.industry, facial imaging, Syndrome, 030104 developmental biology, Face, Three-Dimensional, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58acde39c4a32823262e3b701b879b1Test
https://doi.org/10.1038/s41436-020-0845-yTest

المؤلفون: Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan

المصدر: J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, medicine.medical_treatment, Biology, N-Acetylglucosaminyltransferases, Article, purl.org/becyt/ford/1 [https], chemistry.chemical_compound, Congenital Disorders of Glycosylation, N-linked glycosylation, N-LINKED GLYCOSYLATION, Genetics, medicine, Humans, CONGENITAL DISORDERS OF GLYCOSYLATION, purl.org/becyt/ford/1.6 [https], EPILEPSY, Genetics (clinical), Exome sequencing, Transferrin, Infant, medicine.disease, WHOLE EXOME SEQUENCING, Epileptic spasms, Uridine diphosphate, chemistry, Child, Preschool, Mutation, Medical genetics, Female, Diet, Ketogenic, Spasms, Infantile, Congenital disorder of glycosylation, Biomarkers, Ketogenic diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3Test
https://doi.org/10.1002/jimd.12290Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1262d915122b5286c6375f862f0a5490Test
https://doi.org/10.1002/aur.2314Test

المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield

المساهمون: Shendure, J

المصدر: Genetics, vol 217, iss 2
Genetics

مصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cad9b071d4c621fe5eb7000f9079dfbdTest
https://doi.org/10.1007/s10803-019-03899-0Test