Last Updated: 09/26/2026
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Found 25 publications
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.
Journal: American journal of medical genetics. Part A
Published: February 26, 2026
Evaluation of epilepsy in 8p-related disorders.
Journal: Epilepsy research
Published: October 14, 2025
Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.
Journal: Journal of child neurology
Published: August 06, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Journal: American journal of human genetics
Published: September 13, 2024
Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Journal: Clinical genetics
Published: July 14, 2024
Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.
Journal: American journal of medical genetics. Part A
Published: November 06, 2023
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Journal: Science advances
Published: May 01, 2023
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Journal: American journal of medical genetics. Part A
Published: April 28, 2023
Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.
Journal: American journal of medical genetics. Part A
Published: December 18, 2022
Last Updated: 09/26/2026