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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
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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4دورية 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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5دورية أكاديمية
المؤلفون: Douglas, Michael P, Parker, Stephanie L, Trosman, Julia R, Slavotinek, Anne M, Phillips, Kathryn A
المصدر: Genetics in Medicine. 21(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Good Health and Well Being, Child, Cost-Benefit Analysis, Exome, Humans, Insurance Coverage, Neurodevelopmental Disorders, Exome Sequencing, exome sequencing, Payer coverage policies, Pediatrics, Neurodevelopmental delay, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3s02q2bfTest
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6دورية أكاديمية
المؤلفون: Amendola, Laura M, Berg, Jonathan S, Horowitz, Carol R, Angelo, Frank, Bensen, Jeannette T, Biesecker, Barbara B, Biesecker, Leslie G, Cooper, Gregory M, East, Kelly, Filipski, Kelly, Fullerton, Stephanie M, Gelb, Bruce D, Goddard, Katrina AB, Hailu, Benyam, Hart, Ragan, Hassmiller-Lich, Kristen, Joseph, Galen, Kenny, Eimear E, Koenig, Barbara A, Knight, Sara, Kwok, Pui-Yan, Lewis, Katie L, McGuire, Amy L, Norton, Mary E, Ou, Jeffrey, Parsons, Donald W, Powell, Bradford C, Risch, Neil, Robinson, Mimsie, Rini, Christine, Scollon, Sarah, Slavotinek, Anne M, Veenstra, David L, Wasserstein, Melissa P, Wilfond, Benjamin S, Hindorff, Lucia A, consortium, CSER, Plon, Sharon E, Jarvik, Gail P
المصدر: American Journal of Human Genetics. 103(3)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Services and Systems, Health Sciences, Clinical Sciences, Clinical Research, Human Genome, Health Services, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Good Health and Well Being, Adult, Cost-Benefit Analysis, Delivery of Health Care, Europe, Exome, Genome, Human, Genomics, Humans, National Human Genome Research Institute (U.S.), Phenotype, United States, Whole Genome Sequencing, CSER consortium, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5463d72dTest
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7دورية أكاديمية
المؤلفون: Wu, Di, Mandal, Shyamali, Choi, Alex, Anderson, August, Prochazkova, Michaela, Perry, Hazel, Gil-Da-Silva-Lopes, Vera L, Lao, Richard, Wan, Eunice, Tang, Paul Ling-Fung, Kwok, Pui-yan, Klein, Ophir, Zhuan, Bian, Slavotinek, Anne M
المصدر: Human Molecular Genetics. 24(15)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Pediatric, Dental/Oral and Craniofacial Disease, Pediatric Research Initiative, 2.1 Biological and endogenous factors, Aetiology, Animals, Bone Morphogenetic Protein 4, Brain, Cleft Lip, Cleft Palate, Exome, Gene Expression Regulation, Developmental, HeLa Cells, High-Throughput Nucleotide Sequencing, Homeodomain Proteins, Humans, Jaw Abnormalities, Mesoderm, Mice, Mice, Knockout, Morpholinos, Transcription Factors, Zebrafish, Zebrafish Proteins, Hela Cells, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1r8983dcTest
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8دورية أكاديمية
المؤلفون: Bowling, Kevin M, Thompson, Michelle L, Kelly, Melissa A, Scollon, Sarah, Slavotinek, Anne M, Powell, Bradford C, Kirmse, Brian M, Hendon, Laura G, Brothers, Kyle B, Korf, Bruce R, Cooper, Gregory M, Greally, John M, Hurst, Anna C E
المصدر: 2020-Current year OA Pubs
مصطلحات موضوعية: Humans, United States, Genome, Human, Chromosome Mapping, Base Sequence, Exome, Genomics, Medicine and Health Sciences
وصف الملف: application/pdf
العلاقة: https://digitalcommons.wustl.edu/oa_4/2242Test; https://digitalcommons.wustl.edu/context/oa_4/article/3247/viewcontent/s13073_022_01139_2.pdfTest
الإتاحة: https://doi.org/10.1186/s13073-022-01139-2Test
https://digitalcommons.wustl.edu/oa_4/2242Test
https://digitalcommons.wustl.edu/context/oa_4/article/3247/viewcontent/s13073_022_01139_2.pdfTest