Merve Sogukpınar

Van, Turkey

Last Updated: 09/26/2026

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Found 15 publications

Scaphocephaly as a Novel Phenotypic Feature of WDR83OS-Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review.

Scaphocephaly as a Novel Phenotypic Feature of WDR83OS-Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: May 03, 2026

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

Journal: Molecular syndromology

Published: March 05, 2026

Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.

Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.

Journal: Molecular syndromology

Published: October 26, 2025

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Journal: American journal of medical genetics. Part A

Published: April 26, 2025

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

Journal: Cardiology in the young

Published: April 22, 2025

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: February 19, 2025

Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.

Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.

Journal: Cytogenetic and genome research

Published: October 16, 2024

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Correction to: Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Journal: European journal of pediatrics

Published: July 18, 2024

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Journal: Molecular syndromology

Published: April 19, 2024

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Journal: European journal of pediatrics

Published: April 05, 2024

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Journal: American journal of medical genetics. Part A

Published: March 02, 2024

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

Journal: Neuropediatrics

Published: February 16, 2024

Showing 1-12 of 15

Last Updated: 09/26/2026