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Matthew Mort

Showing results (61-70 of 88) with videos related to

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Human Mutation|February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural ProteomeMichael J Meyer, Ryan Lapcevic, Alfonso E Romero, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|May 22, 2012
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutionsMingxiang Teng, Shoji Ichikawa, Leah R Padgett, et al.
Human Genetics|April 10, 2017
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitutionXinjun Zhang, Meng Li, Hai Lin, 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.
Clinical and Translational Gastroenterology|May 29, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical PhenotypesJames J Ashton, Enrico Mossotto, Imogen S Stafford, 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.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
Gastrointestinal Endoscopy|April 28, 2018
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposisJoanna J Hurley, Laura E Thomas, Sarah-Jane Walton, et al.
Pageof 9

Showing results (61-70 of 88) with videos related to

Sort By:
Pageof 9
Human Mutation|February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural ProteomeMichael J Meyer, Ryan Lapcevic, Alfonso E Romero, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|May 22, 2012
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutionsMingxiang Teng, Shoji Ichikawa, Leah R Padgett, et al.
Human Genetics|April 10, 2017
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitutionXinjun Zhang, Meng Li, Hai Lin, 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.
Clinical and Translational Gastroenterology|May 29, 2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical PhenotypesJames J Ashton, Enrico Mossotto, Imogen S Stafford, 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.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
Gastrointestinal Endoscopy|April 28, 2018
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposisJoanna J Hurley, Laura E Thomas, Sarah-Jane Walton, et al.
Pageof 9