Uzm. Dr. Merve Soğukpınar

When the mimic meets reality: AQP4-IgG seroconversion in a patient with profound biotinidase deficiency presenting with an NMOSD- like phenotype

Neurology Asia, 2026

DOI 10.54029/2026kre Texte intégral en libre accèsSource : ORCID

Sandestig-Stefanova Syndrome: A Case Report Highlighting an Expanded Phenotypic Spectrum and a Novel Homozygous NUP188 Variant

Molecular Syndromology, 2026

DOI 10.1159/msy/adrag002 1 citation (OpenAlex) Source : ORCID

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

International Journal of Developmental Neuroscience, 2026

DOI 10.1002/jdn.70153 PMID 42397082 Source : ORCID

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

Molecular Syndromology, 2026

DOI 10.1159/000553440 PMID 42598376 Texte intégral en libre accèsSource : ORCID

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

Molecular Syndromology, 2026

DOI 10.1159/000552675 PMID 42553919 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

Novel TTN Variant Causing Salih Myopathy and Coexisting Thyroid Dyshormonogenesis: A Case Report

Pediatrics International, 2026

DOI 10.1111/ped.70404 PMID 41988830 Source : ORCID

Assessment of Criminal Responsibility in a Child in Conflict with the Law: Case of Williams-Beuren Syndrome

Turkiye Klinikleri Journal of Forensic Medicine and Forensic Sciences, 2026

DOI 10.5336/forensic.2026-120171 Texte intégral en libre accèsSource : OpenAlex

Syndromic and monogenic obesity in children from a population with frequent consanguinity: molecular spectrum and association with parental consanguinity

Research Square, 2026

DOI 10.21203/rs.3.rs-11361859/v1 Texte intégral en libre accèsSource : OpenAlex

Previously Undiagnosed Clinically Significant Neurogenetic Disorders in Neonates Treated for Presumed Hypoxic–Ischemic Encephalopathy: A Real-World Cohort Study

Children, 2026

DOI 10.3390/children13111490 Texte intégral en libre accèsSource : OpenAlex

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

American Journal of Medical Genetics Part A, 2025

DOI 10.1002/ajmg.a.64128 PMID 40459271 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

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

Cardiology in the Young, 2025

DOI 10.1017/s1047951125001520 PMID 40259772 Texte intégral en libre accèsSource : ORCID

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

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2025

DOI 10.1177/10556656251319644 PMID 39967053 Source : ORCID

Complex congenital cardiac defect associated with the combination of 5p deletion and 4q duplication in a newborn: A case report

Cytogenetic and Genome Research, 2025

DOI 10.1159/000543591 PMID 39837287 1 citation (Europe PMC) Source : ORCID

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

Molecular Syndromology, 2024

DOI 10.1159/000541941 PMID 40475176 Texte intégral en libre accèsSource : ORCID

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

American Journal of Medical Genetics Part A, 2024

DOI 10.1002/ajmg.a.63785 PMID 38860472 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

European journal of pediatrics, 2024

DOI 10.1007/s00431-024-05643-y PMID 38879704 6 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

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

Neuropediatrics, 2024

DOI 10.1055/s-0044-1779618 PMID 38365196 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families

European Journal of Medical Genetics, 2024

DOI 10.1016/j.ejmg.2024.104911 PMID 38281558 6 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

Molecular Syndromology, 2024

DOI 10.1159/000537952 PMID 39129839 Texte intégral en libre accèsSource : ORCID

Tip II Kollajen ile İlişkili İskelet Displazileri

Turkiye Klinikleri Pediatric Genetic Diseases - Genetic Skeletal Disorders, 2024

Source : ORCID

Coexistence of Two Rare Conditions Complicating the Other’s Management: Propionic Acidemia and Apert Syndrome

Molecular Syndromology, 2023

DOI 10.1159/000534380 PMID 38357253 Texte intégral en libre accèsSource : ORCID

Clinical Evaluation of the Five Patients with Mosaic Trisomy 8 Syndrome: Case Series

Turkiye Klinikleri Journal of Pediatrics, 2023

DOI 10.5336/pediatr.2023-95733 Texte intégral en libre accèsSource : ORCID