Academician profile · DOKTOR ÖĞRETİM ÜYESİ
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Scopus (SJR)
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WoS (JCR)
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TR Index
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articles
Articles
- 2025 Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family
- 2025 Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.
- 2024 Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
- 2024 The impact of the Turkish population variome on the genomic architecture of rare disease traits
- 2021 Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report