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BMC Medical Genetics
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July 3, 2014
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile
Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, et al.
Elife
|
March 9, 2023
Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations
Chiara Auwerx, Marie C Sadler, Tristan Woh, et al.
Nature Communications
|
July 26, 2019
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Eleonora Porcu, Sina Rüeger, Kaido Lepik, et al.
Molecular Genetics & Genomic Medicine
|
October 20, 2019
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome
Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, et al.
Genome Research
|
April 14, 2004
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
Emmanouil T Dermitzakis, Ewen Kirkness, Scott Schwarz, et al.
Frontiers in Genetics
|
July 30, 2014
Identification of structural variation in mouse genomes
Thomas M Keane, Kim Wong, David J Adams, et al.
Genome Biology
|
February 20, 2009
Identifying protein-coding genes in genomic sequences
Jennifer Harrow, Alinda Nagy, Alexandre Reymond, et al.
Genome Research
|
March 10, 2010
The effect of translocation-induced nuclear reorganization on gene expression
Louise Harewood, Frédéric Schütz, Shelagh Boyle, et al.
Science (New York, N.Y.)
|
October 4, 2003
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
Emmanouil T Dermitzakis, Alexandre Reymond, Nathalie Scamuffa, et al.
Genes
|
March 29, 2023
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, et al.
Page
of 17
Search research articles
Search
Showing results (21-30 of 169) with videos related to
Sort By:
Page
of 17
BMC Medical Genetics
|
July 3, 2014
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile
Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, et al.
Elife
|
March 9, 2023
Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations
Chiara Auwerx, Marie C Sadler, Tristan Woh, et al.
Nature Communications
|
July 26, 2019
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits
Eleonora Porcu, Sina Rüeger, Kaido Lepik, et al.
Molecular Genetics & Genomic Medicine
|
October 20, 2019
De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome
Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, et al.
Genome Research
|
April 14, 2004
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment
Emmanouil T Dermitzakis, Ewen Kirkness, Scott Schwarz, et al.
Frontiers in Genetics
|
July 30, 2014
Identification of structural variation in mouse genomes
Thomas M Keane, Kim Wong, David J Adams, et al.
Genome Biology
|
February 20, 2009
Identifying protein-coding genes in genomic sequences
Jennifer Harrow, Alinda Nagy, Alexandre Reymond, et al.
Genome Research
|
March 10, 2010
The effect of translocation-induced nuclear reorganization on gene expression
Louise Harewood, Frédéric Schütz, Shelagh Boyle, et al.
Science (New York, N.Y.)
|
October 4, 2003
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)
Emmanouil T Dermitzakis, Alexandre Reymond, Nathalie Scamuffa, et al.
Genes
|
March 29, 2023
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, et al.
Page
of 17