Last Updated: 09/26/2026
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Found 8 publications
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 16, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2020
Increasing Access to High Value Care: Preventing Complications in Common Disorders.
Journal: Telemedicine journal and e-health : the official journal of the American Telemedicine Association
Published: August 11, 2018
Disparities in Health Supervision for Children With Down Syndrome.
Journal: Clinical pediatrics
Published: February 01, 2017
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Journal: American journal of human genetics
Published: September 22, 2014
Inappropriate feeding behaviors and dietary intakes in children with fetal alcohol spectrum disorder or probable prenatal alcohol exposure.
Journal: Alcoholism, clinical and experimental research
Published: June 06, 2013
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Last Updated: 09/26/2026