المؤلفون: Aminbeidokhti, Mona, Qu, Jia-Hua, Belur, Shweta, Cakmak, Hakan, Jaswa, Eleni, Lathi, Ruth B, Sirota, Marina, Snyder, Michael P, Yatsenko, Svetlana A, Rajkovic, Aleksandar

المصدر: Human Genetics. 143(2)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Human Genome, Prevention, Genetic Testing, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Female, Infant, Newborn, Humans, Pregnancy, Animals, Mice, Abortion, Spontaneous, Genes, Lethal, Genetic Carrier Screening, Ethnicity, Computational Biology, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7xk385brTest

المؤلفون: Sparks, Teresa N

المصدر: Human Genetics. 139(9)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Health Services, Clinical Research, Genetic Testing, Good Health and Well Being, Ethnicity, Female, Genetic Carrier Screening, Genetic Counseling, Genetic Diseases, Inborn, Humans, Pregnancy, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0sh0x9dxTest

المؤلفون: Michelle T. Nguyen, Genevieve Mazza, Brian T. Nguyen

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100831- (2023)

مصطلحات موضوعية: Carrier screening, Genetic counseling, Genetic testing, Insurance, Reproductive partner, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008403Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/98f97082bd66405f912da361b2eea021Test

المؤلفون: Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)

مصطلحات موضوعية: ALPL, carrier screening, genetic testing, hypophosphatasia, incidental diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/e1750050062b436c8d1f51dc91e06db3Test

المؤلفون: DAI Yi, CUI Liying

المصدر: 罕见病研究, Vol 1, Iss 1, Pp 28-33 (2022)

مصطلحات موضوعية: spinal muscular atrophy(sma), disease modifying therapy, gene therapy, genetic testing, carrier screening, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2097-0501Test

الوصول الحر: https://doaj.org/article/a292644d8dd7474f9451eb8200544080Test

المؤلفون: Barseghyan, Hayk, Tang, Wilson, Wang, Richard T, Almalvez, Miguel, Segura, Eva, Bramble, Matthew S, Lipson, Allen, Douine, Emilie D, Lee, Hane, Délot, Emmanuèle C, Nelson, Stanley F, Vilain, Eric

المصدر: Genome Medicine. 9(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Duchenne/ Becker Muscular Dystrophy, Biotechnology, Muscular Dystrophy, Pediatric, Human Genome, Brain Disorders, Genetic Testing, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Chromosome Mapping, Cohort Studies, DNA Mutational Analysis, Dystrophin, Female, Gene Deletion, Genetic Carrier Screening, Genome, Human, Genomic Structural Variation, Humans, Male, Mothers, Muscular Dystrophy, Duchenne, Mutagenesis, Insertional, Sequence Inversion, Next-generation mapping, Duchenne muscular dystrophy, Bionano, Structural variants, DMD, Optical mapping, Nanochannel, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2m24k017Test

المؤلفون: Wheeler, Anne, Raspa, Melissa, Hagerman, Randi, Mailick, Marsha, Riley, Catharine

المصدر: Pediatrics. 139(Supplement 3)

مصطلحات موضوعية: Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Genetics, Pediatric Research Initiative, Fragile X Syndrome, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Pediatric, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Ataxia, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Child, Comorbidity, DNA Copy Number Variations, DNA Repeat Expansion, Executive Function, Female, Fragile X Mental Retardation Protein, Genetic Carrier Screening, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Phenotype, Primary Ovarian Insufficiency, Risk Factors, Tremor, Trinucleotide Repeats, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3s0701kvTest

المؤلفون: Berg, Jonathan S, Agrawal, Pankaj B, Bailey, Donald B, Beggs, Alan H, Brenner, Steven E, Brower, Amy M, Cakici, Julie A, Ceyhan-Birsoy, Ozge, Chan, Kee, Chen, Flavia, Currier, Robert J, Dukhovny, Dmitry, Green, Robert C, Harris-Wai, Julie, Holm, Ingrid A, Iglesias, Brenda, Joseph, Galen, Kingsmore, Stephen F, Koenig, Barbara A, Kwok, Pui-Yan, Lantos, John, Leeder, Steven J, Lewis, Megan A, McGuire, Amy L, Milko, Laura V, Mooney, Sean D, Parad, Richard B, Pereira, Stacey, Petrikin, Joshua, Powell, Bradford C, Powell, Cynthia M, Puck, Jennifer M, Rehm, Heidi L, Risch, Neil, Roche, Myra, Shieh, Joseph T, Veeraraghavan, Narayanan, Watson, Michael S, Willig, Laurel, Yu, Timothy W, Urv, Tiina, Wise, Anastasia L

المصدر: Pediatrics. 139(2)

مصطلحات موضوعية: Health Services and Systems, Health Sciences, Pediatric, Biotechnology, Genetics, Genetic Testing, Pediatric Research Initiative, Human Genome, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Generic health relevance, Good Health and Well Being, Exome, Genetic Carrier Screening, Genetic Research, Genome-Wide Association Study, Genomic Structural Variation, Humans, Infant, Newborn, Intensive Care Units, Neonatal, Neonatal Screening, Predictive Value of Tests, Prospective Studies, Public Health, Sequence Analysis, DNA, United States, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/68b8k0r9Test

المؤلفون: Kimberly A. Kaphingst, Jemar R. Bather, Brianne M. Daly, Daniel Chavez-Yenter, Alexis Vega, Wendy K. Kohlmann

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: population screening, genetic testing, cancer predisposition testing, carrier screening, ethnicity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.866062/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/4f007148a67f4532bc5b9f65fdc9e28dTest

المؤلفون: Capalbo, Antonio, de Wert, Guido, Henneman, Lidewij, Kakourou, Georgia, Mcheik, Saria, Peterlin, Borut, van El, Carla, Vassena, Rita, Vermeulen, Nathalie, Viville, Stéphane, Forzano, Francesca

المصدر: Hum Reprod ; ISSN:1460-2350

مصطلحات موضوعية: assisted reproduction, carrier screening, congenital abnormalities, genetic disorder, genetic testing, inherited disease

العلاقة: https://doi.org/10.1093/humrep/deae131Test; https://pubmed.ncbi.nlm.nih.gov/38872341Test

الإتاحة: https://doi.org/10.1093/humrep/deae131Test
https://pubmed.ncbi.nlm.nih.gov/38872341Test