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David N Cooper

Showing results (291-300 of 398) with videos related to

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Human Genomics|January 27, 2018
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephalyYe Wang, Xueli Wu, Liu Du, et al.
American Journal of Human Genetics|August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challengesYuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2020
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genesAntonio Rausell, Yufei Luo, Marie Lopez, et al.
Human Genetics|July 15, 2018
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomasHildegard Kehrer-Sawatzki, Lan Kluwe, Reinhard E Friedrich, et al.
Plos Computational Biology|September 5, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencingYun-Ching Chen, Christopher Douville, Cheng Wang, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeLorenzo Ferri, Maria A Donati, Silvia Funghini, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Nucleic Acids Research|December 10, 2020
Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatinAlbino Bacolla, Shiladitya Sengupta, Zu Ye, et al.
Human Genomics|February 14, 2019
Toward a clinical diagnostic pipeline for SPINK1 intronic variantsXin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, et al.
Pageof 40

Showing results (291-300 of 398) with videos related to

Sort By:
Pageof 40
Human Genomics|January 27, 2018
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephalyYe Wang, Xueli Wu, Liu Du, et al.
American Journal of Human Genetics|August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challengesYuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 4, 2020
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genesAntonio Rausell, Yufei Luo, Marie Lopez, et al.
Human Genetics|July 15, 2018
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomasHildegard Kehrer-Sawatzki, Lan Kluwe, Reinhard E Friedrich, et al.
Plos Computational Biology|September 5, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencingYun-Ching Chen, Christopher Douville, Cheng Wang, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndromeLorenzo Ferri, Maria A Donati, Silvia Funghini, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Nucleic Acids Research|December 10, 2020
Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatinAlbino Bacolla, Shiladitya Sengupta, Zu Ye, et al.
Human Genomics|February 14, 2019
Toward a clinical diagnostic pipeline for SPINK1 intronic variantsXin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, et al.
Pageof 40