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Human Mutation
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December 3, 2017
Properties of human genes guided by their enrichment in rare and common variants
Eman Alhuzimi, Luis G Leal, Michael J E Sternberg, et al.
Human Mutation
|
November 11, 2011
Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs
Alessia David, Rozami Razali, Mark N Wass, et al.
Genome Medicine
|
September 3, 2015
Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types
Alex J Cornish, Ioannis Filippis, Alessia David, et al.
Human Mutation
|
July 27, 2016
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations
Louise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.
Journal of Molecular Biology
|
March 26, 2025
Phyre2.2: A Community Resource for Template-based Protein Structure Prediction
Harold R Powell, Suhail A Islam, Alessia David, et al.
Journal of Molecular Biology
|
January 1, 2026
3DSeqCheck: A web-based tool for verifying sequence consistency between a 3D structure file and the corresponding UniProt entry
Anja Conev, Suhail A Islam, Ifigenia Tsitsa, et al.
Frontiers in Endocrinology
|
June 2, 2012
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
Martin O Savage, Vivian Hwa, Alessia David, et al.
Journal of Molecular Biology
|
June 25, 2023
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data
Cecilia Pennica, Gordon Hanna, Suhail A Islam, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 30, 2010
Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon
Alessia David, Umasuthan Srirangalingam, Louise A Metherell, et al.
Nature Structural & Molecular Biology
|
December 10, 2025
The aging of the AlphaFold database
Ifigenia Tsitsa, Anja Conev, Alessia David, et al.
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of 6
Search research articles
Search
Showing results (11-20 of 52) with videos related to
Sort By:
Page
of 6
Human Mutation
|
December 3, 2017
Properties of human genes guided by their enrichment in rare and common variants
Eman Alhuzimi, Luis G Leal, Michael J E Sternberg, et al.
Human Mutation
|
November 11, 2011
Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs
Alessia David, Rozami Razali, Mark N Wass, et al.
Genome Medicine
|
September 3, 2015
Exploring the cellular basis of human disease through a large-scale mapping of deleterious genes to cell types
Alex J Cornish, Ioannis Filippis, Alessia David, et al.
Human Mutation
|
July 27, 2016
Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations
Louise A Metherell, José Afonso Guerra-Assunção, Michael J Sternberg, et al.
Journal of Molecular Biology
|
March 26, 2025
Phyre2.2: A Community Resource for Template-based Protein Structure Prediction
Harold R Powell, Suhail A Islam, Alessia David, et al.
Journal of Molecular Biology
|
January 1, 2026
3DSeqCheck: A web-based tool for verifying sequence consistency between a 3D structure file and the corresponding UniProt entry
Anja Conev, Suhail A Islam, Ifigenia Tsitsa, et al.
Frontiers in Endocrinology
|
June 2, 2012
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
Martin O Savage, Vivian Hwa, Alessia David, et al.
Journal of Molecular Biology
|
June 25, 2023
Missense3D-PPI: A Web Resource to Predict the Impact of Missense Variants at Protein Interfaces Using 3D Structural Data
Cecilia Pennica, Gordon Hanna, Suhail A Islam, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 30, 2010
Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon
Alessia David, Umasuthan Srirangalingam, Louise A Metherell, et al.
Nature Structural & Molecular Biology
|
December 10, 2025
The aging of the AlphaFold database
Ifigenia Tsitsa, Anja Conev, Alessia David, et al.
Page
of 6