Sofia Emiri-Leka - Publications

Glucocorticoid-prescribing trends in congenital adrenal hyperplasia, 2017 to 2023.

Journal: Endocrine connections

Published: September 03, 2025

Blood pressure and its associations in 554 children and young people with congenital adrenal hyperplasia.

Journal: European journal of endocrinology

Published: December 02, 2024

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Journal: Journal of the Endocrine Society

Published: June 14, 2024

Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.

Journal: Molecular syndromology

Published: February 23, 2021

3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: December 09, 2020

Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Journal: Molecular syndromology

Published: July 21, 2020

17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.

Journal: Molecular syndromology

Published: September 02, 2018

The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP).

Journal: Journal of endocrinological investigation

Published: January 21, 2017

Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.

Journal: Hormone research in paediatrics

Published: January 08, 2013