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European Journal of Human Genetics : EJHG
|
June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
Marcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
European Journal of Human Genetics : EJHG
|
October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Tamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
Cardiovascular Research
|
February 19, 2015
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study
Elijah R Behr, Eleonora Savio-Galimberti, Julien Barc, et al.
Brain : a Journal of Neurology
|
March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Plos One
|
July 10, 2009
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies
Ilja M Nolte, Chris Wallace, Stephen J Newhouse, et al.
Plos One
|
November 14, 2013
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes
Elijah R Behr, Marylyn D Ritchie, Toshihiro Tanaka, et al.
Circulation
|
December 16, 2022
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization
Kevin R Bersell, Tao Yang, Jonathan D Mosley, et al.
Circulation. Cardiovascular Genetics
|
June 22, 2014
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Jared W Magnani, Jennifer A Brody, Bram P Prins, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls
Sam Hodgson, Vi Bui, Siqi Hu, et al.
Circulation. Cardiovascular Genetics
|
November 22, 2011
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes
Stefan Kääb, Dana C Crawford, Moritz F Sinner, et al.
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Search research articles
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Showing results (41-50 of 75) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
Marcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
European Journal of Human Genetics : EJHG
|
October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Tamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
Cardiovascular Research
|
February 19, 2015
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study
Elijah R Behr, Eleonora Savio-Galimberti, Julien Barc, et al.
Brain : a Journal of Neurology
|
March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Plos One
|
July 10, 2009
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies
Ilja M Nolte, Chris Wallace, Stephen J Newhouse, et al.
Plos One
|
November 14, 2013
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes
Elijah R Behr, Marylyn D Ritchie, Toshihiro Tanaka, et al.
Circulation
|
December 16, 2022
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization
Kevin R Bersell, Tao Yang, Jonathan D Mosley, et al.
Circulation. Cardiovascular Genetics
|
June 22, 2014
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
Jared W Magnani, Jennifer A Brody, Bram P Prins, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
An ancestry-enriched HNF4A variant and GP2 reveal distinct mechanisms of type 2 diabetes in exome-wide study of 13,674 cases and 41,024 controls
Sam Hodgson, Vi Bui, Siqi Hu, et al.
Circulation. Cardiovascular Genetics
|
November 22, 2011
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes
Stefan Kääb, Dana C Crawford, Moritz F Sinner, et al.
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of 8