Esra Kılıç

13PUBLICATIONS
26CO-AUTHORS
Medical genetics (excl. cancer genetics)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsMetabolic medicine
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Publications (13)

|Sep 01, 2026
Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

|Jun 09, 2026
Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

|Jun 02, 2026
Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.

|May 19, 2026
Targeted Genetic Testing Uncovers a Novel LRP4 Variant in Cenani-Lenz Syndactyly Syndrome.

|Feb 18, 2026
Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Duygu Çetinkaya, Büşranur Çavdarlı, Emre Kırat

|Oct 08, 2025
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.

Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Abdulkerim Kolkıran

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Frequent Collaborators

6 joint publications

Gönül Büyükyılmaz

4 joint publications

Ayşe Burcu Doğan Arı

4 joint publications

Fatih Gürbüz

3 joint publications

Keziban Toksoy Adıguzel