-
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
-
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
-
3دورية أكاديمية
المؤلفون: Wong, Karen HY, Ma, Walfred, Wei, Chun-Yu, Yeh, Erh-Chan, Lin, Wan-Jia, Wang, Elin HF, Su, Jen-Ping, Hsieh, Feng-Jen, Kao, Hsiao-Jung, Chen, Hsiao-Huei, Chow, Stephen K, Young, Eleanor, Chu, Catherine, Poon, Annie, Yang, Chi-Fan, Lin, Dar-Shong, Hu, Yu-Feng, Wu, Jer-Yuarn, Lee, Ni-Chung, Hwu, Wuh-Liang, Boffelli, Dario, Martin, David, Xiao, Ming, Kwok, Pui-Yan
المصدر: Nature communications. 11(1)
مصطلحات موضوعية: Humans, Chromosome Mapping, Sequence Analysis, DNA, Computational Biology, Genomics, Gene Expression, Genome, Human, Population, Genetic Variation, Molecular Sequence Annotation, Transcriptome, Genotyping Techniques, Whole Genome Sequencing, RNA-Seq, Sequence Analysis, DNA, Genome, Human
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/91v9w899Test
-
4دورية 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
-
5دورية 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 -
6
المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K., Chu, Catherine, Lin, Chin, Geiger, Elizabeth A., Meeks, Naomi J. L., Chatfield, Kathryn C., Coughlin, Curtis R., Surti, Urvashi, Pui-Yan Kwok, Shaikh, Tamim H.
مصطلحات موضوعية: FOS: Computer and information sciences, 60407 Genome Structure and Regulation, FOS: Biological sciences, Data_FILES, Computational Biology, 60408 Genomics, 60102 Bioinformatics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211aec48965024aa566d4a35a8483eabTest
-
7دورية أكاديمية
المؤلفون: Mostovoy, Yulia1,2, Yilmaz, Feyza1,2, Chow, Stephen K.1,2, Chu, Catherine1,2, Lin, Chin1,2, Geiger, Elizabeth A.1,2, Meeks, Naomi J. L.1,2, Chatfield, Kathryn C.1,2, Coughlin II, Curtis R.1,2, Surti, Urvashi1,2, Kwok, Pui-Yan1,2 Pui.Kwok@ucsf.edu, Shaikh, Tamim H.1,2 Tamim.Shaikh@cuanschutz.edu
المصدر: Genetics. Feb2021, Vol. 217 Issue 2, p1-13. 13p.
مصطلحات موضوعية: *HIGH throughput screening (Drug development), *GENOMES, *CHROMOSOME abnormalities, *GENOTYPES, *DESCRIPTIVE statistics, *DISEASE prevalence, *GENE mapping, *PHENOTYPES