Didem Y. Yılmaz

Ankara, Turkey

Last Updated: 09/26/2026

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Found 11 publications

Phenotypic diversity in NAXE mutations.

Phenotypic diversity in NAXE mutations.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: January 26, 2024

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Journal: American journal of medical genetics. Part A

Published: January 16, 2024

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.

Journal: The Turkish journal of pediatrics

Published: August 27, 2021

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

Journal: European journal of medical genetics

Published: January 25, 2021

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Journal: European journal of medical genetics

Published: April 12, 2020

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.

Journal: Metabolic brain disease

Published: May 23, 2019

Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.

Reply to 'contribution of the MRPS22 variant and a down mosaic to the phenotype'.

Journal: Metabolic brain disease

Published: June 26, 2018

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

Journal: The Journal of steroid biochemistry and molecular biology

Published: January 20, 2016

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Journal: Neurology. Genetics

Published: November 05, 2015

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.

Journal: Clinical immunology (Orlando, Fla.)

Published: October 08, 2014

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

Journal: Gene

Published: July 11, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026