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The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Lisa A Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, et al.
Clinical Genetics
|
August 10, 2019
MAGEL2-related disorders: A study and case series
Jameson Patak, James Gilfert, Melissa Byler, et al.
Human Mutation
|
May 22, 2009
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families
George Chong, Jonathan Jarry, Victoria Marcus, et al.
Human Mutation
|
August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Molecular Genetics
|
October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Nature Communications
|
March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Xiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Plos Biology
|
March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Brain : a Journal of Neurology
|
December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Page
of 14
Search research articles
Search
Showing results (61-70 of 139) with videos related to
Sort By:
Page
of 14
The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Lisa A Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, et al.
Clinical Genetics
|
August 10, 2019
MAGEL2-related disorders: A study and case series
Jameson Patak, James Gilfert, Melissa Byler, et al.
Human Mutation
|
May 22, 2009
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families
George Chong, Jonathan Jarry, Victoria Marcus, et al.
Human Mutation
|
August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Molecular Genetics
|
October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
Ewen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.
Nature Communications
|
March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Xiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Plos Biology
|
March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Brain : a Journal of Neurology
|
December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
Raffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Page
of 14