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1دورية أكاديمية
المؤلفون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi
المصدر: Brain : a journal of neurology. 145(9)
مصطلحات موضوعية: Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6xw4z6x0Test
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2دورية أكاديمية
المؤلفون: Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, Mazzeu, Juliana F
المصدر: Human Mutation. 43(7)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8bd0s4d7Test
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3دورية أكاديمية
المؤلفون: Simeonov, Dimitre R, Brandt, Alexander J, Chan, Alice Y, Cortez, Jessica T, Li, Zhongmei, Woo, Jonathan M, Lee, Youjin, Carvalho, Claudia MB, Indart, Alyssa C, Roth, Theodore L, Zou, James, May, Andrew P, Lupski, James R, Anderson, Mark S, Buaas, F William, Rokhsar, Daniel S, Marson, Alexander
المصدر: Communications biology. 2(1)
مصطلحات موضوعية: T-Lymphocytes, Cells, Cultured, Animals, Mice, Inbred NOD, DNA Damage, DNA Repair, Gene Expression Regulation, Gene Duplication, Base Sequence, Mutation, T-Lymphocytes, Regulatory, Interleukin-2 Receptor alpha Subunit, CRISPR-Cas Systems, Gene Editing, Cells, Cultured, Mice, Inbred NOD, Regulatory
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/19g659j4Test
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4دورية أكاديمية
المؤلفون: Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia MB, Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R, Cotterill, Andrew M, Lodish, Maya B, Stratakis, Constantine A
المصدر: Journal of the Endocrine Society. 2(10)
مصطلحات موضوعية: Genetics, Human Genome, Clinical Research
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8m29j21bTest
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5دورية أكاديمية
المؤلفون: White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Genomics, Baylor-Hopkins Center for Mendelian, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, Carvalho, Claudia MB
المصدر: American Journal of Human Genetics. 98(3)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Codon, Nonsense, Craniofacial Abnormalities, Dishevelled Proteins, Dwarfism, Exons, Female, Frameshift Mutation, Genetic Variation, Humans, Limb Deformities, Congenital, Male, Molecular Sequence Data, Phosphoproteins, Proto-Oncogene Proteins, Receptor Tyrosine Kinase-like Orphan Receptors, Sequence Analysis, DNA, Sequence Deletion, Urogenital Abnormalities, Wnt Proteins, Wnt-5a Protein, Baylor-Hopkins Center for Mendelian Genomics, 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/36157337Test
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6دورية أكاديمية
المؤلفون: White, Janson J, Mazzeu, Juliana F, Hoischen, Alexander, Bayram, Yavuz, Withers, Marjorie, Gezdirici, Alper, Kimonis, Virginia, Steehouwer, Marloes, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Baylor-Hopkins Center for Mendelian Genomics, van Bon, Bregje WM, Sutton, V Reid, Lupski, James R, Brunner, Han G, Carvalho, Claudia MB
المصدر: American journal of human genetics. 98(3)
مصطلحات موضوعية: Baylor-Hopkins Center for Mendelian Genomics, Humans, Dwarfism, Craniofacial Abnormalities, Limb Deformities, Congenital, Urogenital Abnormalities, Adaptor Proteins, Signal Transducing, Proto-Oncogene Proteins, Phosphoproteins, Codon, Nonsense, Sequence Analysis, DNA, Sequence Deletion, Base Sequence, Frameshift Mutation, Alleles, Exons, Molecular Sequence Data, Female, Male, Wnt Proteins, Genetic Variation, Receptor Tyrosine Kinase-like Orphan Receptors, Wnt-5a Protein, Dishevelled Proteins, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1g11d5m0Test
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7دورية أكاديمية
المؤلفون: Soler-Alfonso, Claudia, Carvalho, Claudia MB, Ge, Jun, Roney, Erin K, Bader, Patricia I, Kolodziejska, Katarzyna E, Miller, Rachel M, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Bi, Weimin, Schaaf, Christian P
المصدر: European Journal of Human Genetics ; volume 22, issue 9, page 1071-1076 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/ejhg.2013.302Test
http://www.nature.com/articles/ejhg2013302.pdfTest
http://www.nature.com/articles/ejhg2013302Test -
8دورية أكاديمية
المؤلفون: Liu Pengfei, Walter Klaudia, Writzl Karin, Gelowani Violet, Lindsay Sarah, Carvalho Claudia MB, Withers Marjorie, Wiszniewska Joanna, Patel Ankita, Rautenstrauss Bernd, Hurles Matthew E, Lupski James R
المصدر: BMC Proceedings, Vol 6, Iss Suppl 6, p P25 (2012)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1753-6561Test
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9دورية أكاديمية
المؤلفون: Hanchard Neil A, Carvalho Claudia MB, Bader Patricia, Thome Aaron, Omo-Griffith Lisa, del Gaudio Daniela, Pehlivan Davut, Fang Ping, Schaaf Christian P, Ramocki Melissa B, Lupski James R, Cheung Sau Wai
المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 71 (2012)
مصطلحات موضوعية: Rearrangement, CNV, 3′ UTR, X-linked intellectual disability, Epilepsy, Internal medicine, RC31-1245, Genetics, QH426-470
العلاقة: http://www.biomedcentral.com/1471-2350/13/71Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/43f74174420b48d8a9087be59cad10cfTest
الإتاحة: https://doi.org/10.1186/1471-2350-13-71Test
https://doaj.org/article/43f74174420b48d8a9087be59cad10cfTest -
10دورية أكاديمية
المؤلفون: Hanchard, Neil A, Carvalho, Claudia MB, Bader, Patricia, Thome, Aaron, Omo-Griffith, Lisa, del Gaudio, Daniela, Pehlivan, Davut, Fang, Ping, Schaaf, Christian P, Ramocki, Melissa B, Lupski, James R, Cheung, Sau Wai
مصطلحات موضوعية: Rearrangement, CNV, 3′ UTR, X-linked intellectual disability, Epilepsy