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Human Mutation
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February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome
Michael 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 resequencing
Yali 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 setting
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Nature Communications
|
September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidence
Áine Duffy, Robert Chen, David Stein, et al.
Bioinformatics (Oxford, England)
|
May 22, 2012
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions
Mingxiang Teng, Shoji Ichikawa, Leah R Padgett, et al.
Human Genetics
|
January 6, 2006
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
Violaine Goidts, Lluis Armengol, Werner Schempp, et al.
Human Genetics
|
April 10, 2017
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution
Xinjun Zhang, Meng Li, Hai Lin, et al.
Human Genetics
|
June 26, 2021
Compensatory epistasis explored by molecular dynamics simulations
Catarina Serrano, Carla S S Teixeira, David N Cooper, et al.
Frontiers in Immunology
|
July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
David Requena, Patrick Maffucci, Benedetta Bigio, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2005
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
Mohammed Tredano, David N Cooper, Manfred Stuhrmann, et al.
Page
of 40
Search research articles
Search
Showing results (281-290 of 398) with videos related to
Sort By:
Page
of 40
Human Mutation
|
February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome
Michael 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 resequencing
Yali 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 setting
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Nature Communications
|
September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidence
Áine Duffy, Robert Chen, David Stein, et al.
Bioinformatics (Oxford, England)
|
May 22, 2012
regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions
Mingxiang Teng, Shoji Ichikawa, Leah R Padgett, et al.
Human Genetics
|
January 6, 2006
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
Violaine Goidts, Lluis Armengol, Werner Schempp, et al.
Human Genetics
|
April 10, 2017
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution
Xinjun Zhang, Meng Li, Hai Lin, et al.
Human Genetics
|
June 26, 2021
Compensatory epistasis explored by molecular dynamics simulations
Catarina Serrano, Carla S S Teixeira, David N Cooper, et al.
Frontiers in Immunology
|
July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
David Requena, Patrick Maffucci, Benedetta Bigio, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2005
Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency
Mohammed Tredano, David N Cooper, Manfred Stuhrmann, et al.
Page
of 40