Last Updated: 09/26/2026
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Found 13 publications
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Journal: The Journal of steroid biochemistry and molecular biology
Published: November 17, 2020
Commentary on a Curious Case of Primary Amenorrhea.
Journal: Clinical chemistry
Published: January 18, 2020
The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46,XX Patients With Congenital Adrenal Hyperplasia.
Journal: Clinical pediatrics
Published: September 29, 2018
Height Growth Impairment in Children With Neurofibromatosis Type 1 Is Characterized by Decreased Pubertal Growth Velocity in Both Sexes.
Journal: Journal of child neurology
Published: July 17, 2018
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
Journal: Journal of pediatric urology
Published: April 06, 2017
Moyamoya syndrome causing stroke in young women with type 1 diabetes.
Journal: Journal of diabetes and its complications
Published: July 28, 2016
Integrated small copy number variations and epigenome maps of disorders of sex development.
Journal: Human genome variation
Published: January 15, 2016
Last Updated: 09/26/2026