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American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
JAMA Pediatrics|January 6, 2026
Social Determinants of Health and Pediatric Long COVID in the USKyung E Rhee, Tanayott Thaweethai, Deepti B Pant, et al.
Pageof 70

Showing results (691-700 of 700) with videos related to

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Pageof 70
You have reached the last page of results.This site can display upto 700 results.
American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
JAMA Pediatrics|January 6, 2026
Social Determinants of Health and Pediatric Long COVID in the USKyung E Rhee, Tanayott Thaweethai, Deepti B Pant, et al.
Pageof 70