Last Updated: 09/26/2026
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Found 88 publications
The Use of Presurgical Lip-Alveolus-Nose Approximation in Early Infant Orthopedics: A Clinical Case Series.
Journal: Medicina (Kaunas, Lithuania)
Published: July 01, 2026
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
Journal: American journal of human genetics
Published: June 05, 2026
Abnormal Presentation of FGFR2-Related Bent Bones Dysplasia Surviving Past the Perinatal Period in the United States.
Journal: American journal of medical genetics. Part A
Published: April 10, 2026
Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case.
Journal: Clinical case reports
Published: January 20, 2026
ACMG Medical Directors' Special Interest Group survey: Current challenges for medical genetics clinics.
Journal: Genetics in medicine open
Published: December 10, 2025
Beyond the cleft: dual diagnoses in patients with cleft lip and/or palate unrelated to orofacial malformations.
Journal: Current opinion in pediatrics
Published: November 05, 2025
Evidence supporting the role of GIGYF2 in synapse development and autism.
Journal: Molecular psychiatry
Published: July 07, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Obesity Prevalence in DDX3X-Related Neurodevelopmental Disorder.
Journal: American journal of medical genetics. Part A
Published: February 20, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
The genetics workforce must be addressed before we can realize the benefits of gene therapy.
Journal: Current opinion in pediatrics
Published: November 07, 2024
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
Journal: HGG advances
Published: October 01, 2024
Last Updated: 09/26/2026