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1دورية أكاديمية
المؤلفون: Shieh, Joseph T, Penon-Portmann, Monica, Wong, Karen HY, Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C, Mendelsohn, Bryce A, Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K, Sharo, Andrew G, Brenner, Steven E, Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D, Martin, David, Kwok, Pui-Yan, Boffelli, Dario
المصدر: NPJ genomic medicine. 6(1)
مصطلحات موضوعية: Human Genome, Genetics, Genetic Testing, Prevention, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8xw3j9kmTest
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2دورية أكاديمية
المؤلفون: Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H
المصدر: Human Molecular Genetics. 29(13)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Rare Diseases, Neurosciences, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Animals, Antigens, Neoplasm, Cerebellum, Developmental Disabilities, Dwarfism, Exosome Multienzyme Ribonuclease Complex, Frameshift Mutation, Homozygote, Humans, Mutation, Missense, Nervous System Malformations, Pedigree, RNA-Binding Proteins, Zebrafish, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4t04689rTest
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3دورية 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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4دورية أكاديمية
المؤلفون: Kumar, Akash, Zastrow, Diane B, Kravets, Elijah J, Beleford, Daniah, Ruzhnikov, Maura RZ, Grove, Megan E, Dries, Annika M, Kohler, Jennefer N, Waggott, Daryl M, Yang, Yaping, Huang, Yong, Network, Undiagnosed Diseases, Mackenzie, Katherine M, Eng, Christine M, Fisher, Paul G, Ashley, Euan A, Teng, Joyce M, Stevenson, David A, Shieh, Joseph T, Wheeler, Matthew T, Bernstein, Jonathan A
المصدر: American Journal of Medical Genetics Part A. 179(6)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Rare Diseases, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Aetiology, Alleles, Child, Diagnosis, Differential, GTP-Binding Protein alpha Subunits, GTP-Binding Protein alpha Subunits, Gq-G11, Genotype, Humans, Infant, Magnetic Resonance Angiography, Magnetic Resonance Imaging, Male, Mutation, Neurocutaneous Syndromes, Phenotype, Skin, Exome Sequencing, GNA11, GNAQ, management, phacomatosis cesioflammea, phacomatosis cesiomarmorata, phacomatosis pigmentovascularis, Undiagnosed Diseases Network, GNA11, GNAQ, Genetics, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7ww536w6Test
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5دورية أكاديمية
المؤلفون: Chan, Andrew K, Han, Seunggu J, Choy, Winward, Beleford, Daniah, Aghi, Manish K, Berger, Mitchel S, Shieh, Joseph T, Bollen, Andrew W, Perry, Arie, Phillips, Joanna J, Butowski, Nicholas, Solomon, David A
المصدر: Clinical Neuropathology. 36(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Human Genome, Stem Cell Research - Nonembryonic - Non-Human, Neurosciences, Stem Cell Research, Genetics, Biotechnology, Brain Cancer, Brain Disorders, Rare Diseases, Cancer, 2.1 Biological and endogenous factors, Aetiology, Astrocytoma, Cyclin-Dependent Kinase Inhibitor p15, Cyclin-Dependent Kinase Inhibitor p16, Cyclin-Dependent Kinase Inhibitor p18, Humans, Male, Melanoma, Nervous System Neoplasms, Pedigree, Young Adult, glioma predisposition syndrome, CDKN2A, p16INK4a, diffuse astrocytoma, pleomor-phicxanthoastrocytoma, nerve sheath tumor, melanocytic nevi, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6cv8m30jTest
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6دورية أكاديمية
المؤلفون: Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
المصدر: npj Genomic Medicine ; volume 6, issue 1 ; ISSN 2056-7944
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41525-021-00251-3Test
https://www.nature.com/articles/s41525-021-00251-3.pdfTest
https://www.nature.com/articles/s41525-021-00251-3Test -
7دورية أكاديمية
المؤلفون: Choy, Winward, Chan, Andrew K, Han, Seunggu J, Beleford, Daniah, Aghi, Manish K, Berger, Mitchel S, Shieh, Joseph T, Bollen, Andrew W, Perry, Arie, Phillips, Joanna J, Butowski, Nicholas, Solomon, David A
المصدر: Neuro-Oncology ; volume 19, issue suppl_6, page vi171-vi172 ; ISSN 1522-8517 1523-5866
مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology
الإتاحة: https://doi.org/10.1093/neuonc/nox168.698Test
http://academic.oup.com/neuro-oncology/article-pdf/19/suppl_6/vi171/21593128/nox168.698.pdfTest -
8دورية أكاديمية
المؤلفون: Schmidt, Rebecca L., Rinaldo, Francesca M., Hesse, Shayla E., Hamada, Masakazu, Ortiz, Zachary, Beleford, Daniah T., Page-McCaw, Andrea, Platt, Jeffrey L., Tang, Amy H.
المصدر: Self/Nonself ; volume 2, issue 3, page 125-141 ; ISSN 1938-2030 1938-2049
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9دورية أكاديمية
المؤلفون: Beleford, Daniah, Rattan, Ramandeep, Chien, Jeremy, Shridhar, Viji
المصدر: Journal of Biological Chemistry ; volume 285, issue 16, page 12011-12027 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1074/jbc.m109.097790Test
https://api.elsevier.com/content/article/PII:S0021925819610823?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925819610823?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Tomshine, Jin C., Severson, Sandra R., Wigle, Dennis A., Sun, Zhifu, Beleford, Daniah A.T., Shridhar, Vijayalakshmi, Horazdovsky, Bruce F.
المصدر: Journal of Biological Chemistry ; volume 284, issue 39, page 26331-26339 ; ISSN 0021-9258
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1074/jbc.m109.033514Test
https://api.elsevier.com/content/article/PII:S0021925820384635?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925820384635?httpAccept=text/plainTest