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Edward Blair

Showing results (51-60 of 67) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
Human Molecular Genetics|October 11, 2017
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disabilityBenjamin Davies, Laurence A Brown, Ondrej Cais, et al.
Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Nature Communications|March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningRyan M Baxley, Wendy Leung, Megan M Schmit, et al.
Heart Rhythm|February 11, 2026
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECGCarin de Villiers, Elizabeth Ormondroyd, Kate Thomson, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2023
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosureJoshua Nolan, James Buchanan, John Taylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
Human Molecular Genetics|October 11, 2017
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disabilityBenjamin Davies, Laurence A Brown, Ondrej Cais, et al.
Human Molecular Genetics|April 16, 2008
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityMiriam Gordillo, Hugo Vega, Alison H Trainer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Nature Communications|March 13, 2021
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteningRyan M Baxley, Wendy Leung, Megan M Schmit, et al.
Heart Rhythm|February 11, 2026
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECGCarin de Villiers, Elizabeth Ormondroyd, Kate Thomson, et al.
Human Molecular Genetics|January 28, 2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosisHilary C Martin, Grace E Kim, Alistair T Pagnamenta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2023
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosureJoshua Nolan, James Buchanan, John Taylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.
The Lancet. Neurology|December 3, 2013
The genetic basis of DOORS syndrome: an exome-sequencing studyPhilippe M Campeau, Dalia Kasperaviciute, James T Lu, et al.
Pageof 7