Search research articles
Contact Us
Filters
Showing results (111-120 of 135) with videos related to
Page
of 14
Sort By:
American Journal of Human Genetics
|
October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Irit Hochberg, Leigh A M Demain, Julie Richer, et al.
Epilepsia
|
April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics
|
October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
The Journal of Clinical Investigation
|
January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Devesh C Pant, Imen Dorboz, Agatha Schluter, et al.
The Journal of Experimental Medicine
|
November 7, 2022
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
Aurélien Sokal, Paul Bastard, Pascal Chappert, et al.
Iscience
|
December 24, 2025
<i>OAS1</i> and <i>OAS3</i> genetic variants enhance inflammatory responses to SARS-CoV-2
Marta L DeDiego, Raúl López-Fernández-Sobrino, Jordi Pedragosa, et al.
Journal of Clinical Immunology
|
September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Francesco Saettini, Fabiola Guerra, Mario Mauri, et al.
American Journal of Human Genetics
|
April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart, Xenia Latypova, Paul Rollier, et al.
Nature Communications
|
May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
The Journal of Experimental Medicine
|
January 4, 2024
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
Paul Bastard, Adrian Gervais, Maki Taniguchi, et al.
Page
of 14
Search research articles
Search
Showing results (111-120 of 135) with videos related to
Sort By:
Page
of 14
American Journal of Human Genetics
|
October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Irit Hochberg, Leigh A M Demain, Julie Richer, et al.
Epilepsia
|
April 2, 2026
Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, et al.
American Journal of Human Genetics
|
October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
The Journal of Clinical Investigation
|
January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Devesh C Pant, Imen Dorboz, Agatha Schluter, et al.
The Journal of Experimental Medicine
|
November 7, 2022
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination
Aurélien Sokal, Paul Bastard, Pascal Chappert, et al.
Iscience
|
December 24, 2025
<i>OAS1</i> and <i>OAS3</i> genetic variants enhance inflammatory responses to SARS-CoV-2
Marta L DeDiego, Raúl López-Fernández-Sobrino, Jordi Pedragosa, et al.
Journal of Clinical Immunology
|
September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
Francesco Saettini, Fabiola Guerra, Mario Mauri, et al.
American Journal of Human Genetics
|
April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart, Xenia Latypova, Paul Rollier, et al.
Nature Communications
|
May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
The Journal of Experimental Medicine
|
January 4, 2024
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
Paul Bastard, Adrian Gervais, Maki Taniguchi, et al.
Page
of 14