Merve Soğukpınar

6PUBLICATIONS
24CO-AUTHORS
Clinical social work practiceMedical physiology not elsewhere classifiedAnthropological geneticsMedical mycologyMedical molecular engineering of nucleic acids and proteins
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Publications (6)

|Jul 03, 2026
Scaphocephaly as a Novel Phenotypic Feature of WDR83OS-Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review.

|Apr 16, 2026
Novel TTN Variant Causing Salih Myopathy and Coexisting Thyroid Dyshormonogenesis: A Case Report.

|Jun 03, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

Enise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan

|Jun 11, 2024
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Akçahan Akalın, Ercan Ayaz, Merve Soğukpınar

|Feb 16, 2024
Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper

|Dec 01, 2022
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Merve Güvenoğlu, Pelin Özlem Şimşek-Kiper, Can Koşukcu

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Frequent Collaborators

4 joint publications

Pelin Özlem Şimşek-Kiper

3 joint publications

Gülen Eda Utine

2 joint publications

Enise Avcı-Durmuşalioğlu

2 joint publications

Akçahan Akalın