Senol Demir

Van, 65000, Turkey

Last Updated: 09/26/2026

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Found 22 publications

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort.

Journal: Molecular genetics and metabolism

Published: April 28, 2026

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases.

Journal: Life (Basel, Switzerland)

Published: February 13, 2026

Diagnostic Utility of Genetic Testing in Hyperthyroxinemia With Non-Suppressed TSH.

Diagnostic Utility of Genetic Testing in Hyperthyroxinemia With Non-Suppressed TSH.

Journal: Clinical endocrinology

Published: October 29, 2025

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort.

Journal: European journal of pediatrics

Published: July 29, 2025

RNA sequencing detects more challenging cases of somatic hypermutation in the IgHV gene in patients with chronic lymphocytic leukemia.

RNA sequencing detects more challenging cases of somatic hypermutation in the IgHV gene in patients with chronic lymphocytic leukemia.

Journal: Turkish journal of medical sciences

Published: July 04, 2025

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 03, 2025

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Journal: Clinical genetics

Published: February 20, 2025

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: January 06, 2025

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: September 10, 2024

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

Journal: Journal of clinical research in pediatric endocrinology

Published: August 08, 2024

A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin’s Lymphoma: A Case Report

A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin’s Lymphoma: A Case Report

Journal: Journal of clinical research in pediatric endocrinology

Published: June 24, 2024

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Journal: American journal of medical genetics. Part A

Published: May 08, 2024

Showing 1-12 of 22

Last Updated: 09/26/2026