Dilek U. Alkaya

Istanbul, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Journal: Orphanet journal of rare diseases

Published: July 04, 2025

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Journal: Pediatric radiology

Published: August 01, 2024

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants.

Journal: Bone

Published: August 11, 2022

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Journal: The Journal of pediatrics

Published: March 15, 2022

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Journal: Journal of human genetics

Published: December 06, 2021

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.

Seven patients with Smith-McCort dysplasia 2: Four novel nonsense variants in RAB33B and follow-up findings.

Journal: European journal of medical genetics

Published: January 26, 2021

Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.

Journal: Molecular syndromology

Published: February 20, 2020

Epidemiology and survival of childhood cancer in Turkey.

Epidemiology and survival of childhood cancer in Turkey.

Journal: Pediatric blood & cancer

Published: November 17, 2019

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Journal: Brain : a journal of neurology

Published: July 27, 2019

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

Journal: Gene

Published: January 06, 2019

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Journal: Gene

Published: July 30, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026