Travaux scientifiques

Uzm. Dr. Pelin Özyavuz Çubuk

18 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review

    Molecular Syndromology, 2026

    DOI 10.1159/000551451 PMID 42125344 Texte intégral en libre accèsSource : OpenAlex

  2. A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient

    Beyoglu Eye Journal, 2026

    DOI 10.14744/bej.2026.46343 PMID 42898511 Texte intégral en libre accèsSource : OpenAlex

  3. Ichthyosis and ARSA deficiency: An unusual clinical presentation

    Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2025

    DOI 10.34087/cbusbed.1356022 Texte intégral en libre accèsSource : OpenAlex

  4. New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients

    Biochemical genetics, 2024

    DOI 10.1007/s10528-024-10880-9 PMID 38971859 2 citations (Europe PMC) Source : Europe PMC

  5. Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

    Molecular biology reports, 2024

    DOI 10.1007/s11033-024-09545-y PMID 38664339 7 citations (Europe PMC) Source : Europe PMC

  6. New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication

    Molecular Biology Reports, 2024

    DOI 10.1007/s11033-023-09192-9 PMID 38300327 Source : OpenAlex

  7. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

    Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2024

    DOI 10.24938/kutfd.1495687 Texte intégral en libre accèsSource : OpenAlex

  8. Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy

    The Nephron journals/Nephron journals, 2023

    DOI 10.1159/000533417 PMID 37611544 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  9. The Spectrum of Dystrophin Gene Deletions and Duplications in a cohort of Patients with Duchenne/Becker Muscular Dystrophy in Türkiye

    OSMANGAZİ JOURNAL OF MEDICINE, 2023

    DOI 10.20515/otd.1317452 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  10. The Clinical and Molecular Cytogenetic Analyses of Six Patients with Pelizaeus-Merzbacher Disease From Four Families

    Turkish Journal of Pediatric Disease, 2023

    DOI 10.12956/tchd.1275274 Texte intégral en libre accèsSource : OpenAlex

  11. CHALLENGES FOR CHROMOSOME ANALYSIS IN PREGNANCY LOSS: LESSONS LEARNED FROM 1208 SAMPLE EXPERIENCE

    Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2023

    DOI 10.24938/kutfd.1257034 Texte intégral en libre accèsSource : OpenAlex

  12. Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease

    European Journal of Medical Genetics, 2021

    DOI 10.1016/j.ejmg.2021.104343 PMID 34530144 10 citations (OpenAlex) Source : OpenAlex

  13. Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene

    Molecular Syndromology, 2021

    DOI 10.1159/000514531 PMID 34421502 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  14. Molecular karyotyping in anorectal malformations: Could DGCR6 gene haploinsufficiency cause anal atresia in 22q11 deletion syndrome?

    Journal of Clinical Practice and Research, 2021

    DOI 10.14744/etd.2021.58701 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  15. Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations

    Journal of Dr Behcet Uz Children s Hospital, 2020

    DOI 10.5222/buchd.2020.43155 Texte intégral en libre accèsSource : OpenAlex

  16. Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion

    Journal of Human Genetics, 2020

    DOI 10.1038/s10038-020-00859-w PMID 33093640 3 citations (OpenAlex) Source : OpenAlex

  17. Smith–Magenis Syndrome: Clues in the Clinic

    Journal of Pediatric Genetics, 2020

    DOI 10.1055/s-0039-1700965 PMID 32765933 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  18. A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome

    Journal of Pediatric Hematology/Oncology, 2018

    DOI 10.1097/mph.0000000000001134 PMID 29620677 5 citations (OpenAlex) Source : OpenAlex