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1دورية أكاديمية
المؤلفون: Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J, Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H, Shaikh, Tamim H, Zwick, Michael E, Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G
المصدر: Genome Medicine. 15(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Humans, Segmental Duplications, Genomic, Chromosome Mapping, Genomics, Syndrome, Haplotypes, DNA Copy Number Variations, 3q29, Structural variations, Genomic disorders, Schizophrenia, NAHR, Copy number variant(s), Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6cv3233cTest
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2دورية أكاديمية
المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H
المصدر: Genetics. 217(2)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, segmental duplications, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/15562671Test
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3دورية أكاديمية
المؤلفون: Demaerel, Wolfram, Mostovoy, Yulia, Yilmaz, Feyza, Vervoort, Lisanne, Pastor, Steven, Hestand, Matthew S, Swillen, Ann, Vergaelen, Elfi, Geiger, Elizabeth A, Coughlin, Curtis R, Chow, Stephen K, McDonald-McGinn, Donna, Morrow, Bernice, Kwok, Pui-Yan, Xiao, Ming, Emanuel, Beverly S, Shaikh, Tamim H, Vermeesch, Joris R
المصدر: Genome Research. 29(9)
مصطلحات موضوعية: Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, 22q11 Deletion Syndrome, Animals, Cell Line, Chromosomal Instability, Chromosome Mapping, Chromosomes, Human, Pair 22, Evolution, Molecular, Humans, In Situ Hybridization, Fluorescence, Primates, Repetitive Sequences, Nucleic Acid, Biological Sciences, Medical and Health Sciences, Bioinformatics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/19t7w11cTest
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4دورية أكاديمية
المؤلفون: Null, Megan, Yilmaz, Feyza, Astling, David, Yu, Hung-Chun, Cole, Joanne B., Hallgrímsson, Benedikt, Santorico, Stephanie A., Spritz, Richard A., Shaikh, Tamim H., Hendricks, Audrey E.
المساهمون: National Institute of Dental and Craniofacial Research, National Institutes of Health
المصدر: Human Genetics and Genomics Advances ; volume 3, issue 1, page 100082 ; ISSN 2666-2477
مصطلحات موضوعية: Genetics (clinical), Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100082Test
https://api.elsevier.com/content/article/PII:S2666247721000634?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247721000634?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Mlynarski, Elisabeth E, Sheridan, Molly B, Xie, Michael, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Gai, Xiaowu, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H, Bassett, Anne S, Goldmuntz, Elizabeth, Morrow, Bernice E, Emanuel, Beverly S, Consortium, the International Chromosome 22q11 2
المصدر: American Journal of Human Genetics. 96(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Rare Diseases, Congenital Structural Anomalies, Genetics, Heart Disease, Clinical Research, Cardiovascular, Prevention, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adult, Aorta, Thoracic, DNA Copy Number Variations, DiGeorge Syndrome, Female, Genotype, Glucose Transporter Type 3, Heart Defects, Congenital, Humans, Male, Polymorphism, Single Nucleotide, International Chromosome 22q11.2 Consortium, Biological Sciences, 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/9vv571bvTest
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6دورية أكاديمية
المؤلفون: Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Jeffrey, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H., Vermeesch, Joris R.
المصدر: 1664-8021 ; Frontiers in genetics
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000679152600001
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7دورية أكاديمية
المؤلفون: Yilmaz, Feyza, Null, Megan, Astling, David, Yu, Hung-Chun, Cole, Joanne, Santorico, Stephanie A., Hallgrimsson, Benedikt, Manyama, Mange, Spritz, Richard A., Hendricks, Audrey E., Shaikh, Tamim H.
المساهمون: National Institutes of Health
المصدر: BMC Medical Genomics ; volume 14, issue 1 ; ISSN 1755-8794
مصطلحات موضوعية: Genetics (clinical), Genetics
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8دورية أكاديمية
المؤلفون: Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
مصطلحات موضوعية: RESEARCH ARTICLE
وصف الملف: text/html
العلاقة: http://bio.biologists.org/cgi/content/short/9/4/bio051367Test; http://dx.doi.org/10.1242/bio.051367Test
الإتاحة: https://doi.org/10.1242/bio.051367Test
http://bio.biologists.org/cgi/content/short/9/4/bio051367Test -
9دورية أكاديمية
المؤلفون: Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, Eichler, Evan E
المصدر: Nature Genetics. 42(3)
مصطلحات موضوعية: Agricultural, Veterinary and Food Sciences, Biological Sciences, Bioinformatics and Computational Biology, Genetics, Agricultural Biotechnology, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adult, Case-Control Studies, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Comparative Genomic Hybridization, Developmental Disabilities, Family, Gene Frequency, Humans, Infant, Models, Genetic, Oligonucleotide Array Sequence Analysis, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Recurrence, Severity of Illness Index, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/89w1x55xTest
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10دورية أكاديمية
المؤلفون: McCarthy, Shane E, Makarov, Vladimir, Kirov, George, Addington, Anjene M, McClellan, Jon, Yoon, Seungtai, Perkins, Diana O, Dickel, Diane E, Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A, Grozeva, Detelina, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H, Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D, Spinner, Nancy B, Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B, Leotta, Anthony, Kendall, Jude, Lee, Yoon-ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia M, Crow, Timothy J, Christian, Susan L, Lieberman, Jeffrey A, Stroup, T Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L, DeRosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J, Malhotra, Anil K, Potash, James B, Schulze, Thomas G, Nöthen, Markus M, Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M, Sutcliffe, James S, Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R, Craddock, Nick, Owen, Michael J, O'Donovan, Michael C, Shaikh, Tamim H, Susser, Ezra, DeLisi, Lynn E, Sullivan, Patrick F, Deutsch, Curtis K, Rapoport, Judith, Levy, Deborah L, King, Mary-Claire, Sebat, Jonathan
المصدر: Nature Genetics. 41(11)
مصطلحات موضوعية: Mental health, Chromosomes, Human, Pair 16, Gene Duplication, Genetic Predisposition to Disease, Humans, Risk Factors, Schizophrenia, Wellcome Trust Case Control Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7s81v6xsTest