Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 24 publications
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.
Journal: Neurology. Genetics
Published: December 20, 2024
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations.
Journal: Kidney international reports
Published: March 02, 2024
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Journal: Genetics in medicine open
Published: September 11, 2023
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 10, 2022
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Journal: American journal of human genetics
Published: December 23, 2021
Mitochondrial Donation - Which Women Could Benefit?
Journal: The New England journal of medicine
Published: May 16, 2019
GNE genotype explains 20% of phenotypic variability in GNE myopathy.
Journal: Neurology. Genetics
Published: September 07, 2018
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
Journal: Annals of clinical and translational neurology
Published: December 21, 2017
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
Journal: Orphanet journal of rare diseases
Published: May 15, 2017
Harvesting wind energy to detect weak signals using mechanical stochastic resonance.
Journal: Physical review. E
Published: September 06, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Journal: Human molecular genetics
Published: September 02, 2015
Last Updated: 09/26/2026