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1دورية أكاديمية
المؤلفون: Rego, Shannon, Hoban, Hannah, Outram, Simon, Zamora, Astrid N, Chen, Flavia, Sahin-Hodoglugil, Nuriye, Anguiano, Beatriz, Norstad, Matthew, Yip, Tiffany, Lianoglou, Billie, Sparks, Teresa N, Norton, Mary E, Koenig, Barbara A, Slavotinek, Anne M, Ackerman, Sara L
المصدر: Genetics in Medicine. 24(6)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Human Genome, Clinical Research, Child, Exome, Family, Female, Genome, Human, Genomics, Humans, Pregnancy, Exome Sequencing, Exome sequencing, Genome sequencing, Secondary findings, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/174592k3Test
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2دورية أكاديمية
المؤلفون: Swanson, Kate, Sparks, Teresa N, Lianoglou, Billie R, Chen, Flavia, Downum, Sarah, Patel, Sachi, Rego, Shannon, Yip, Tiffany, Van Ziffle, Jessica, Koenig, Barbara A, Slavotinek, Anne M, Norton, Mary E
المصدر: Prenatal Diagnosis. 42(6)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Sciences, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Pediatric, Child, Cohort Studies, Exome, Family, Female, Humans, Parents, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine, Clinical sciences, Reproductive medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/89h179r4Test
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3دورية أكاديمية
المساهمون: National Human Genome Research Institute, National Institutes of Health
المصدر: Human Genetics and Genomics Advances ; volume 5, issue 3, page 100286 ; ISSN 2666-2477
مصطلحات موضوعية: Genetics (clinical), Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100286Test
https://api.elsevier.com/content/article/PII:S2666247724000253?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247724000253?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Phillips, Kathryn A, Trosman, Julia R, Douglas, Michael P, Gelb, Bruce D, Ferket, Bart S, Hindorff, Lucia A, Slavotinek, Anne M, Berg, Jonathan S, Russell, Heidi V, Devine, Beth, Greve, Veronica, Smith, Hadley Stevens
المصدر: Genetics in Medicine. 24(1)
مصطلحات موضوعية: Clinical Research, Genetics, Human Genome, Good Health and Well Being, Base Sequence, Chromosome Mapping, Exome, Humans, Insurance Coverage, Exome Sequencing, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/40k972djTest
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5دورية أكاديمية
المؤلفون: Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E
المصدر: Obstetrical & Gynecological Survey. 76(3)
مصطلحات موضوعية: Paediatrics and Reproductive Medicine, Obstetrics & Reproductive Medicine
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2v62d0jgTest
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6دورية أكاديمية
المؤلفون: Biesecker, Leslie G, Adam, Margaret P, Alkuraya, Fowzan S, Amemiya, Anne R, Bamshad, Michael J, Beck, Anita E, Bennett, James T, Bird, Lynne M, Carey, John C, Chung, Brian, Clark, Robin D, Cox, Timothy C, Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B, Giampietro, Philip F, Girisha, Katta M, Glass, Ian A, Graham, John M, Gripp, Karen W, Haldeman-Englert, Chad R, Hall, Bryan D, Innes, A Micheil, Kalish, Jennifer M, Keppler-Noreuil, Kim M, Kosaki, Kenjiro, Kozel, Beth A, Mirzaa, Ghayda M, Mulvihill, John J, Nowaczyk, Malgorzata JM, Pagon, Roberta A, Retterer, Kyle, Rope, Alan F, Sanchez-Lara, Pedro A, Seaver, Laurie H, Shieh, Joseph T, Slavotinek, Anne M, Sobering, Andrew K, Stevens, Cathy A, Stevenson, David A, Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C, Weaver, David D, Williams, Marc S, Zackai, Elaine, Zarate, Yuri A
المصدر: American Journal of Human Genetics. 108(1)
مصطلحات موضوعية: Rare Diseases, Genetics, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Diseases, Inborn, Genomics, Genotype, Humans, Mutation, Phenotype, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/14k5b9qxTest
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7دورية أكاديمية
المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M
المصدر: Clinical Genetics. 98(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9pk8m065Test
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8دورية أكاديمية
المؤلفون: Sparks, Teresa N, Lianoglou, Billie R, Adami, Rebecca R, Pluym, Ilina D, Holliman, Kerry, Duffy, Jennifer, Downum, Sarah L, Patel, Sachi, Faubel, Amanda, Boe, Nina M, Field, Nancy T, Murphy, Aisling, Laurent, Louise C, Jolley, Jennifer, Uy, Cherry, Slavotinek, Anne M, Devine, Patrick, Hodoglugil, Ugur, Van Ziffle, Jessica, Sanders, Stephan J, MacKenzie, Tippi C, Norton, Mary E
المصدر: New England Journal of Medicine. 383(18)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Health Sciences, Brain Disorders, Genetics, Pediatric, Clinical Research, Human Genome, Genetic Testing, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Reproductive health and childbirth, Good Health and Well Being, Female, Genetic Variation, Humans, Hydrops Fetalis, Pregnancy, Prenatal Diagnosis, Prognosis, Exome Sequencing, University of California Fetal–Maternal Consortium, University of California, San Francisco Center for Maternal–Fetal Precision Medicine, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1kf0c1jqTest
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9دورية أكاديمية
المؤلفون: Mendelsohn, Bryce A, Beleford, Daniah T, Abu‐El‐Haija, Aya, Alsaleh, Norah S, Rahbeeni, Zuhair, Martin, Pierre‐Marie, Rego, Shannon, Huang, Alyssa, Capodanno, Gina, Shieh, Joseph T, Van Ziffle, Jessica, Risch, Neil, Alkuraya, Fowzan S, Slavotinek, Anne M
المصدر: American Journal of Medical Genetics Part A. 182(3)
مصطلحات موضوعية: Pediatric, Rare Diseases, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Humans, Male, Mutation, Trichothiodystrophy Syndromes, X Chromosome Inactivation, RNF113A, spliceosome, trichothiodystrophy, zinc finger, RNF113A, Genetics, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/17b4j483Test
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10دورية أكاديمية
المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V
المصدر: American journal of human genetics. 105(2)
مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8wx8g9p6Test