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1دورية أكاديمية
المؤلفون: Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Kevin Booth
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101216- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Reynold Ly, Amy Breman, Marwan Tayeh, Benjamin Helm, Brett Graham, Stephanie Ware
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101434- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101494- (2024)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100265- (2023)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Muqsit Buchh, Patrick Gillespie, Kayla Treat, Marco Abreu, Tae-Hwi Schwantes-An, Benjamin Helm, Fang Fang, Xaoling Xuei, Lili Mantcheva, Kristen Suhrie, Brett Graham, Erin Conboy, Francesco Vetrini
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100480- (2023)
وصف الملف: electronic resource
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6
المصدر: J Community Genet
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Epidemiology, medicine.medical_treatment, Public health, Genetic counseling, Public Health, Environmental and Occupational Health, Neurogenetics, Support group, Test (assessment), Comprehension, medicine, Original Article, Psychology, Genetics (clinical), Genetic testing
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7
المؤلفون: Muqsit, Buchh, Patrick J, Gillespie, Kayla, Treat, Marco A, Abreu, Tae-Hwi Linus, Schwantes-An, Benjamin M, Helm, Fang, Fang, Xiaoling, Xuei, Lili, Mantcheva, Kristen R, Suhrie, Brett H, Graham, Erin, Conboy, Francesco, Vetrini
المصدر: Cold Spring Harbor molecular case studies. 8(7)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::07ed3b11d7292330652228b2d138df8c
https://pubmed.ncbi.nlm.nih.gov/36442996 -
8
المؤلفون: Erin Conboy, Catherine Nowak, Karen Stals, Elliot S. Stolerman, Brett Bostwick, Tiana M. Scott, Emma Wakeling, Cyril Mignot, Sian Ellard, Brittany C. Michel, Kayla Treat, Berrak Ugur, Jill A. Rosenfeld, Caroline Nava, Sally Ann Lynch, Victoria M. Pratt, Hugo J. Bellen, Aiko Otsubo, Michael F. Wangler, Jennifer Gass, John Herriges, Jennifer B. Phillips, Gaetan Lesca, Bo Yuan, Shinya Yamamoto, Scott Barish, Marjon van Slegtenhorst, Jessica Douglas, Dihong Zhou, Patrick Edery, David R. Murdock, Jeremy Wegner, Jose Camacho, Marie Faoucher, Boris Keren, Camerun Washington, Elena Perenthaler, Kendra Engleman, Francesco Vetrini, Anita Nikoncuk, Alfredo M. Valencia, Daryl A. Scott, Cigall Kadoch, Isabelle Thiffault, Tahsin Stefan Barakat, Chun-An Chen, Lance H. Rodan, Raymond J. Louie, Hongzheng Dai, Alice S. Brooks, Nazar Mashtalir, Monte Westerfield, Nora Shannon
المساهمون: Clinical Genetics
المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(6), 1096-1112. Cell Pressمصطلحات موضوعية: Male, Adolescent, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Mutation, Missense, Haploinsufficiency, Article, Chromatin remodeling, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Drosophila Proteins, Humans, Missense mutation, Child, Zebrafish, Genetics (clinical), Genes, Dominant, 030304 developmental biology, Neurons, 0303 health sciences, Microscopy, Confocal, biology, SWI/SNF complex, Coarse facial features, Tumor Suppressor Proteins, Genetic Variation, Infant, Zebrafish Proteins, Position-effect variegation, biology.organism_classification, Phenotype, Drosophila melanogaster, Child, Preschool, Female, Neuroglia, 030217 neurology & neurosurgery, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a2119984a12b57df62077f22734a60
https://doi.org/10.1016/j.ajhg.2020.11.003 -
9
المؤلفون: Georgianne Younger, Victoria M. Pratt, Kayla Treat, Francesco Vetrini, David D. Weaver, Ty C. Lynnes, Wilfredo Torres-Martinez
المصدر: American Journal of Medical Genetics Part A. 182:2501-2507
مصطلحات موضوعية: Rib cage, Pathology, medicine.medical_specialty, business.industry, Unilateral cryptorchidism, medicine.disease, Hypotonia, Agenesis, Genetics, Etiology, Medicine, Missense mutation, medicine.symptom, Single Palmar Crease, business, Genetics (clinical), Septum pellucidum
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10
المؤلفون: Annalise, Jacobs, Catherine, Burns, Purva, Patel, Kayla, Treat, Benjamin M, Helm, Erin, Conboy, Francesco, Vetrini
المصدر: Cold Spring Harbor molecular case studies. 8(2)
مصطلحات موضوعية: Heterozygote, Fetal Growth Retardation, Rare Diseases, Pregnancy, Microcephaly, Feasibility Studies, Humans, Abnormalities, Multiple, Female, Growth Disorders, Receptor, IGF Type 1
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a8f666ea10086e90903ee52b354035f0
https://pubmed.ncbi.nlm.nih.gov/35091507
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