Concepedia

Sophia Tahir

ST

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Publications

4

Citations

84

H-Index

4

Active since

2014

Affiliations

University College London(Current)

Great Ormond Street Hospital for Children NHS Foundation Trust

Diyarbakır Askeri Hastanesi

Sophia Tahir is an author at University College London specializing in genetics, translational medicine, and metabolic syndrome.

ORCID

Top concepts

Publications per year

2014–2020

4

Publications

4

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I

Sophia Tahir, Hüseyin Demirbilek, Mehmet Nuri Özbek et al. · Hormone Research in Paediatrics · 2016 · 32 citations

A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency

Roberto Oleari, Valentina Andrè, Antonella Lettieri et al. · Neuroendocrinology · 2020 · 23 citations · Full text

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Sophia Tahir, Lieve G.J. Leijssen, Maha Sherif et al. · International Journal of Pediatric Endocrinology · 2015 · 19 citations · Full text

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Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

Hüseyin Demirbilek, Sophia Tahir, Rıza Taner Baran et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 10 citations · Full text

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