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1دورية أكاديمية
المؤلفون: Kim Keppler-Noreuil, Sharon Luu, Katryn Furuya, Seth Berger, Eyby Leon
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101143- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424002899Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Eyby Leon
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101267- (2024)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424004138Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100255- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423002558Test; https://doaj.org/toc/2949-7744Test
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المؤلفون: Udeme D, Ekong, Sahithi, Reddy, Nada, Yazigi, Khalid, Khan, Stuart, Kaufman, Kimberly A, Chapman, Eyby, Leon, Nicholas Ah, Mew, Debra, Regier, Erin, MacLeod, Alexander, Kroemer, Raffaelle, Girlanda, Jason, Hawksworth, Cal S, Matsumoto, Thomas M, Fishbein
المصدر: Liver Transplantation. 28:1947-1950
مصطلحات موضوعية: Transplantation, Maple Syrup Urine Disease, Hepatology, Living Donors, Humans, Surgery, Child, Liver Transplantation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb836667f8ec2233942ed728014196c0Test
https://doi.org/10.1002/lt.26526Test -
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المؤلفون: Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog
المصدر: American Journal of Medical Genetics Part A. 188:2738-2749
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b66d3c54f69fb3e39a611777e46bfaaTest
https://doi.org/10.1002/ajmg.a.62893Test -
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المؤلفون: Eyby Leon, Claris Nde, Randall S. Ray, Diego Preciado, Irene E. Zohn
المصدر: Am J Med Genet A
مصطلحات موضوعية: Genetics, Genetics (clinical), Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d60363d5d4bf01b69c67274652fd144Test
https://europepmc.org/articles/PMC9805811Test/ -
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المؤلفون: Eyby Leon, Erin MacLeod, Christina Lee Grant, Danielle Starin, Kimberly Chapman
المصدر: Molecular Genetics and Metabolism. 138:107444
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1521bd28a994cfcf9cf2b0e66bcd911aTest
https://doi.org/10.1016/j.ymgme.2023.107444Test -
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المؤلفون: Natasha Shur, Andrea J. Cohen, Tamanna R. Roshan Lal, Erin MacLeod, Eyby Leon, Danielle Starin, Debra S Regier
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Telemedicine, Genetics, Medical, Health Personnel, media_common.quotation_subject, Education environment, Telehealth, 030105 genetics & heredity, 03 medical and health sciences, Genetics, medicine, House call, Humans, Genetics(clinical), Quality (business), Child, Set (psychology), Pandemics, Genetics (clinical), Quality of Health Care, media_common, Medical education, Education, Medical, SARS-CoV-2, Pilot programs, COVID-19, Hospitals, Pediatric, Quality Improvement, House Calls, 030104 developmental biology, Medical genetics, Patient Care, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935e6e301a6b0fc1190bad7ab45eaf7Test
https://doi.org/10.1002/ajmg.c.31882Test -
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المؤلفون: Eyby Leon, Jullianne Diaz, Timothy D. Kane
المصدر: American Journal of Medical Genetics Part A. 182:425-430
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Glycosylation, Adolescent, Population, Achalasia, Nerve Tissue Proteins, Alacrima, Indigenous, Consanguinity, Pathognomonic, Intellectual Disability, Genetics, Humans, Medicine, Child, education, Founder mutation, Genetics (clinical), education.field_of_study, business.industry, Homozygote, Exons, medicine.disease, Nucleotidyltransferases, Pedigree, Esophageal Achalasia, Nuclear Pore Complex Proteins, Phenotype, Mutation, Mutation (genetic algorithm), Female, business, Congenital disorder of glycosylation, Adrenal Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a48b63672aa177e60cf6b90cbe286eTest
https://doi.org/10.1002/ajmg.a.61476Test -
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المؤلفون: Seth Berger, Jullianne Diaz, Eyby Leon
المصدر: American Journal of Medical Genetics Part A. 182:584-590
مصطلحات موضوعية: Male, Genetics, Nonsynonymous substitution, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Somatic cell, Coarse facial features, TFE3, Biology, Lysosomal Storage Diseases, Phenotype, Neurodevelopmental Disorders, Intellectual Disability, Exome Sequencing, Humans, Missense mutation, Female, Child, Enhancer, Transcription factor, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb17460d21488e15a7da6ab351c71a7dTest
https://doi.org/10.1002/ajmg.a.61437Test