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Publications by Ali Kemal Topaloğlu

Wolcott-Rallison Syndrome With Novel EIF2AK3 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Osteogenezis İmperfekta Olan Çocuklarda İki Farklı Pamidronat Protokolünün Değerlendirilmesi

Cukurova Medical Journal

English

Related publications

Wolcott-Rallison Syndrome

Orphanet Journal of Rare Diseases

English

Wolcott-Rallison Syndrome: Clinical, Genetic, and Functional Study of EIF2AK3 Mutations and Suggestion of Genetic Heterogeneity

Internal Medicine

English

A Novel ROGDI Gene Mutation Is Associated With Kohlschutter-Tonz Syndrome

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Nuclear Medicine

Forensic Medicine

English

EIF2AK3 Novel Mutation in a Child With Early-Onset Diabetes Mellitus, a Case Report

English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology

Forensic Medicine

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

English

A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports

Endocrine Abstracts

English

A Novel PANK2 Gene Mutation With Sudden-Onset Dystonia

Canadian Journal of Neurological Sciences

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English