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Circulation. Genomic and Precision Medicine
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May 13, 2022
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study
Marine Tortigue, Lynne E Nield, Matilde Karakachoff, et al.
American Journal of Human Genetics
|
January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Sébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Nature Genetics
|
July 23, 2013
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie R Bezzina, Julien Barc, Yuka Mizusawa, et al.
Journal of Personalized Medicine
|
September 23, 2022
Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis
Sandrine Morel, Isabel C Hostettler, Georg R Spinner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
Nature Genetics
|
December 23, 2020
Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Mark K Bakker, Rick A A van der Spek, Wouter van Rheenen, et al.
Nature Genetics
|
November 17, 2020
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Mark K Bakker, Rick A A van der Spek, Wouter van Rheenen, et al.
Molecular Psychiatry
|
October 23, 2019
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
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of 14
Search research articles
Search
Showing results (111-120 of 131) with videos related to
Sort By:
Page
of 14
Circulation. Genomic and Precision Medicine
|
May 13, 2022
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study
Marine Tortigue, Lynne E Nield, Matilde Karakachoff, et al.
American Journal of Human Genetics
|
January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Sébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
Nature Genetics
|
July 23, 2013
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie R Bezzina, Julien Barc, Yuka Mizusawa, et al.
Journal of Personalized Medicine
|
September 23, 2022
Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis
Sandrine Morel, Isabel C Hostettler, Georg R Spinner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry, Jinwei Zhang, Thomas Besnard, et al.
Nature Genetics
|
December 23, 2020
Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Mark K Bakker, Rick A A van der Spek, Wouter van Rheenen, et al.
Nature Genetics
|
November 17, 2020
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Mark K Bakker, Rick A A van der Spek, Wouter van Rheenen, et al.
Molecular Psychiatry
|
October 23, 2019
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
Page
of 14