Last Updated: 09/26/2026
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Found 12 publications
Adult Height Following Prepubertal Treatment With Antiandrogen, Aromatase Inhibitor, and Reduced Hydrocortisone in CAH.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 18, 2024
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
Journal: American journal of medical genetics. Part A
Published: May 06, 2022
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Journal: The Journal of clinical investigation
Published: February 02, 2016
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Journal: The Journal of clinical investigation
Published: February 03, 2015
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 12, 2014
Post-operative growth is different in various forms of pediatric Cushing's syndrome.
Journal: Endocrine-related cancer
Published: September 27, 2014
Skeletal maturation in children with Cushing syndrome is not consistently delayed: the role of corticotropin, obesity, and steroid hormones, and the effect of surgical cure.
Journal: The Journal of pediatrics
Published: August 01, 2013
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Journal: American journal of ophthalmology
Published: June 03, 2013
Ultrasound is superior to computed tomography for assessment of medullary nephrocalcinosis in hypoparathyroidism.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 26, 2013
Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 20, 2012
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
Journal: Pediatric radiology
Published: April 13, 2012
Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.
Journal: Arthritis and rheumatism
Published: February 02, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026