Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.
Journal: European heart journal. Case reports
Published: September 18, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.
Journal: JBMR plus
Published: July 24, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Journal: HGG advances
Published: May 23, 2022
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Journal: Journal of medical genetics
Published: December 07, 2021
Partial recapitulation of fetal thymic T-cell constitution postnatally in a patient with cartilage hair hypoplasia-anauxetic dysplasia spectrum disorder: A case report.
Journal: Cytometry. Part B, Clinical cytometry
Published: February 03, 2021
Last Updated: 09/26/2026