Ali Topak

Bursa, Turkey

Last Updated: 09/26/2026

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Found 20 publications

Clinical Exome Sequencing in Pediatric Patients.

Clinical Exome Sequencing in Pediatric Patients.

Journal: Cureus
Published: March 10, 2025

H syndrome with bilateral choroidal osteoma: Coincidence or association?

H syndrome with bilateral choroidal osteoma: Coincidence or association?

Journal: European journal of ophthalmology
Published: January 21, 2025

RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.

RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.

Journal: Human heredity
Published: November 26, 2024

ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.

ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.

Journal: Fetal and pediatric pathology
Published: September 22, 2023

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Journal: Laboratory medicine
Published: April 20, 2023

NOTCH3 Variants in Patients with Suspected CADASIL.

NOTCH3 Variants in Patients with Suspected CADASIL.

Journal: Annals of Indian Academy of Neurology
Published: December 11, 2022

Clinical exome sequencing findings in 1589 patients.

Clinical exome sequencing findings in 1589 patients.

Journal: American journal of medical genetics. Part A
Published: August 25, 2022

Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

Journal: Neurological research
Published: May 26, 2021

Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.

Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 30, 2021

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Journal: Metabolic brain disease
Published: January 28, 2021

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Journal: Clinical dysmorphology
Published: July 09, 2020

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.

Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.

Journal: American journal of medical genetics. Part A
Published: January 17, 2020
Showing 1-12 of 20

Last Updated: 09/26/2026