Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 133 publications
Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.
Journal: Molecular genetics and metabolism
Published: April 20, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.
Journal: The Journal of general physiology
Published: February 27, 2026
Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.
Journal: JAMA pediatrics
Published: November 17, 2025
Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 22, 2025
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 22, 2025
Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).
Journal: Hormone research in paediatrics
Published: October 14, 2025
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Journal: The New England journal of medicine
Published: October 23, 2024
Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.
Journal: Clinical chemistry
Published: August 16, 2024
Last Updated: 09/26/2026