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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
BMC Medical Genomics
|
December 4, 2014
FLAGS, frequently mutated genes in public exomes
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, et al.
Human Mutation
|
December 28, 2020
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Phillip A Richmond, Tamar V Av-Shalom, Oriol Fornes, et al.
Human Molecular Genetics
|
October 26, 2013
Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Allison M Cotton, Chih-Yu Chen, Lucia L Lam, et al.
Frontiers in Public Health
|
May 12, 2020
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts
Nadine Rena Caron, Meck Chongo, Maui Hudson, et al.
BMC Genomics
|
February 19, 2005
Identification of functional SNPs in the 5-prime flanking sequences of human genes
Salim Mottagui-Tabar, Mohammad A Faghihi, Yosuke Mizuno, et al.
Genome Biology
|
April 24, 2015
Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas
Anthony Mathelier, Calvin Lefebvre, Allen W Zhang, et al.
Human Molecular Genetics
|
April 11, 2025
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context
Samantha Peeters, Sarah Baldry, Andrea J Korecki, et al.
Plos One
|
January 24, 2008
Gene characterization index: assessing the depth of gene annotation
Danielle Kemmer, Raf M Podowski, Dimas Yusuf, et al.
Nucleic Acids Research
|
December 31, 2005
A new generation of JASPAR, the open-access repository for transcription factor binding site profiles
Dominique Vlieghe, Albin Sandelin, Pieter J De Bleser, et al.
Page
of 18
Search research articles
Search
Showing results (61-70 of 172) with videos related to
Sort By:
Page
of 18
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
BMC Medical Genomics
|
December 4, 2014
FLAGS, frequently mutated genes in public exomes
Casper Shyr, Maja Tarailo-Graovac, Michael Gottlieb, et al.
Human Mutation
|
December 28, 2020
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases
Phillip A Richmond, Tamar V Av-Shalom, Oriol Fornes, et al.
Human Molecular Genetics
|
October 26, 2013
Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains
Allison M Cotton, Chih-Yu Chen, Lucia L Lam, et al.
Frontiers in Public Health
|
May 12, 2020
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts
Nadine Rena Caron, Meck Chongo, Maui Hudson, et al.
BMC Genomics
|
February 19, 2005
Identification of functional SNPs in the 5-prime flanking sequences of human genes
Salim Mottagui-Tabar, Mohammad A Faghihi, Yosuke Mizuno, et al.
Genome Biology
|
April 24, 2015
Cis-regulatory somatic mutations and gene-expression alteration in B-cell lymphomas
Anthony Mathelier, Calvin Lefebvre, Allen W Zhang, et al.
Human Molecular Genetics
|
April 11, 2025
Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context
Samantha Peeters, Sarah Baldry, Andrea J Korecki, et al.
Plos One
|
January 24, 2008
Gene characterization index: assessing the depth of gene annotation
Danielle Kemmer, Raf M Podowski, Dimas Yusuf, et al.
Nucleic Acids Research
|
December 31, 2005
A new generation of JASPAR, the open-access repository for transcription factor binding site profiles
Dominique Vlieghe, Albin Sandelin, Pieter J De Bleser, et al.
Page
of 18