Abdulkerim Kolkıran

Ankara, Turkey

Last Updated: 09/26/2026

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Found 21 publications

Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma.

Homozygous DIAPH1 Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma.

Journal: Pediatric allergy, immunology, and pulmonology

Published: July 10, 2026

Thanatophoric Dysplasia Type 1 with Severe Pulmonary Hypoplasia: Discharge after Tracheostomy.

Thanatophoric Dysplasia Type 1 with Severe Pulmonary Hypoplasia: Discharge after Tracheostomy.

Journal: Zeitschrift fur Geburtshilfe und Neonatologie

Published: June 10, 2026

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey.

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey.

Journal: American journal of medical genetics. Part A

Published: March 13, 2026

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Journal: European journal of pediatrics

Published: January 14, 2026

When the Clinical Picture Demands More: Dual Diagnosis of Neurofibromatosis Type 1 and Auriculocondylar Syndrome 2A in a Pediatric Case.

When the Clinical Picture Demands More: Dual Diagnosis of Neurofibromatosis Type 1 and Auriculocondylar Syndrome 2A in a Pediatric Case.

Journal: Molecular syndromology

Published: December 28, 2025

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort.

Journal: American journal of medical genetics. Part A

Published: December 26, 2025

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye.

Journal: The Turkish journal of pediatrics

Published: September 11, 2025

Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant.

Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant.

Journal: Molecular syndromology

Published: September 04, 2025

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 17, 2025

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

Journal: Molecular syndromology

Published: August 05, 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

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 20, 2025

Showing 1-12 of 21

Last Updated: 09/26/2026