Tayfun Cinleti

Izmir, Turkey

Last Updated: 09/26/2026

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Found 18 publications

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI.

Journal: Journal of clinical research in pediatric endocrinology

Published: November 17, 2025

Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.

Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature.

Journal: Molecular syndromology

Published: October 31, 2025

A Case of Carney Complex with Pontine Glioma

A Case of Carney Complex with Pontine Glioma

Journal: Journal of clinical research in pediatric endocrinology

Published: August 18, 2025

Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature.

Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature.

Journal: Journal of clinical research in pediatric endocrinology

Published: July 09, 2025

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the WDR81 Gene.

Journal: Molecular syndromology

Published: March 18, 2024

Mediterranean Fever (MEFV) Gene Variants in Kawasaki Disease in Turkish Children: Do They Influence the Disease Course?

Mediterranean Fever (MEFV) Gene Variants in Kawasaki Disease in Turkish Children: Do They Influence the Disease Course?

Journal: Journal of clinical practice and research

Published: February 08, 2024

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.

Journal: Molecular syndromology

Published: June 24, 2023

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

Journal: Clinical dysmorphology

Published: May 17, 2023

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Journal: Molecular syndromology

Published: May 14, 2023

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Journal: Acta neurologica Belgica

Published: April 04, 2023

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.

Journal: Molecular syndromology

Published: November 16, 2022

Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY.

Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 02, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026