Last Updated: 09/26/2026
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Found 8 publications
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Journal: American journal of medical genetics. Part A
Published: September 24, 2021
A Pediatric Case of Abrupt-Onset, Autoantibody-Negative Diabetes With Marked Insulin Resistance Concomitant With COVID-19.
Journal: Clinical diabetes : a publication of the American Diabetes Association
Published: August 23, 2021
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
Journal: American journal of medical genetics. Part A
Published: June 01, 2021
Isolation and Education During a Pandemic: Novel Telehealth Approach to Family Education for a Child With New-Onset Type 1 Diabetes and Concomitant COVID-19.
Journal: Clinical diabetes : a publication of the American Diabetes Association
Published: February 08, 2021
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 27, 2016
Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.
Journal: Pediatric endocrinology reviews : PER
Published: January 14, 2015
Ablation of ghrelin receptor in leptin-deficient ob/ob mice has paradoxical effects on glucose homeostasis when compared with ablation of ghrelin in ob/ob mice.
Journal: American journal of physiology. Endocrinology and metabolism
Published: June 07, 2012
A single sample GnRHa stimulation test in the diagnosis of precocious puberty.
Journal: International journal of pediatric endocrinology
Published: March 26, 2012
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Last Updated: 09/26/2026