Esra Kılıc

Ankara, Turkey

Last Updated: 09/26/2026

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Found 38 publications

PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.

PTCH1-Related Gorlin Syndrome: Expanding the Clinical and Molecular Spectrum in a Cohort of 11 Patients.

Journal: Klinische Padiatrie

Published: July 16, 2026

Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

Journal: American journal of medical genetics. Part A

Published: May 14, 2026

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.

Journal: European journal of pediatrics

Published: April 10, 2026

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Journal: Klinische Padiatrie

Published: February 02, 2026

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Journal: Clinical genetics

Published: December 27, 2025

Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.

Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.

Journal: American journal of medical genetics. Part A

Published: November 18, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.

Denosumab treatment in a sporadic case of cherubism: a rare pediatric fibro-osseous disorder.

Journal: Oral surgery, oral medicine, oral pathology and oral radiology

Published: September 16, 2025

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Journal: European journal of medical genetics

Published: August 02, 2025

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.

Journal: European journal of pediatrics

Published: July 18, 2025

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Journal: European journal of pediatrics

Published: July 03, 2025

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Last Updated: 09/26/2026