Search research articles
Contact Us
Filters
Showing results (41-50 of 116) with videos related to
Page
of 12
Sort By:
Circulation
|
September 10, 2024
IRS2 Signaling Protects Against Stress-Induced Arrhythmia by Maintaining Ca<sup>2+</sup> Homeostasis
Qian Shi, Jinxi Wang, Hamza Malik, et al.
Plos One
|
March 9, 2013
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, et al.
The Journal of Allergy and Clinical Immunology
|
October 11, 2016
Exome and genome sequencing for inborn errors of immunity
Isabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
The Journal of Experimental Medicine
|
December 14, 2011
Evolutionary genetic dissection of human interferons
Jérémy Manry, Guillaume Laval, Etienne Patin, et al.
Frontiers in Genetics
|
May 16, 2020
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, et al.
Frontiers in Immunology
|
July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
David Requena, Patrick Maffucci, Benedetta Bigio, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 2, 2016
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage
Aziz Belkadi, Vincent Pedergnana, Aurélie Cobat, et al.
American Journal of Human Genetics
|
February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Meltem Ece Kars, David Stein, Peter D Stenson, et al.
Nature Communications
|
October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score
Robert Chen, Áine Duffy, Ben O Petrazzini, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Page
of 12
Search research articles
Search
Showing results (41-50 of 116) with videos related to
Sort By:
Page
of 12
Circulation
|
September 10, 2024
IRS2 Signaling Protects Against Stress-Induced Arrhythmia by Maintaining Ca<sup>2+</sup> Homeostasis
Qian Shi, Jinxi Wang, Hamza Malik, et al.
Plos One
|
March 9, 2013
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease
Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, et al.
The Journal of Allergy and Clinical Immunology
|
October 11, 2016
Exome and genome sequencing for inborn errors of immunity
Isabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
The Journal of Experimental Medicine
|
December 14, 2011
Evolutionary genetic dissection of human interferons
Jérémy Manry, Guillaume Laval, Etienne Patin, et al.
Frontiers in Genetics
|
May 16, 2020
Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, et al.
Frontiers in Immunology
|
July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency
David Requena, Patrick Maffucci, Benedetta Bigio, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 2, 2016
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage
Aziz Belkadi, Vincent Pedergnana, Aurélie Cobat, et al.
American Journal of Human Genetics
|
February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data
Meltem Ece Kars, David Stein, Peter D Stenson, et al.
Nature Communications
|
October 15, 2024
Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score
Robert Chen, Áine Duffy, Ben O Petrazzini, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Page
of 12