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Clinical Case Reports
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July 8, 2016
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
Elizabeth A Sellars, Bonnie R Sullivan, G Bradley Schaefer
European Journal of Medical Genetics
|
May 10, 2021
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association
Lisa A Lansdon, Emily A Fleming, Florencia Del Viso, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implications
K Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
Scientific Reports
|
March 29, 2017
Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease
Robert M Bragg, Sydney R Coffey, Rory M Weston, et al.
Scientific Reports
|
February 9, 2017
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease
Robert M Bragg, Sydney R Coffey, Rory M Weston, et al.
Nature Communications
|
February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
American Journal of Human Genetics
|
March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Shreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines
Susan M White, Annelotte P Wondergem, Isa Breet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
American Journal of Human Genetics
|
April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
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Search research articles
Search
Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Clinical Case Reports
|
July 8, 2016
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
Elizabeth A Sellars, Bonnie R Sullivan, G Bradley Schaefer
European Journal of Medical Genetics
|
May 10, 2021
Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association
Lisa A Lansdon, Emily A Fleming, Florencia Del Viso, et al.
American Journal of Medical Genetics. Part A
|
September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implications
K Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
Scientific Reports
|
March 29, 2017
Corrigendum: Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease
Robert M Bragg, Sydney R Coffey, Rory M Weston, et al.
Scientific Reports
|
February 9, 2017
Motivational, proteostatic and transcriptional deficits precede synapse loss, gliosis and neurodegeneration in the B6.Htt<sup>Q111/+</sup> model of Huntington's disease
Robert M Bragg, Sydney R Coffey, Rory M Weston, et al.
Nature Communications
|
February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
American Journal of Human Genetics
|
March 19, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Shreyas Bhat, Justine Rousseau, Coralie Michaud, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines
Susan M White, Annelotte P Wondergem, Isa Breet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, et al.
American Journal of Human Genetics
|
April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Page
of 2