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Open access Oct 2026

Whole-exome sequencing in a Turkish autism spectrum disorder cohort: a retrospective study of molecular diagnostic yield in isolated and complex presentations

Whole-exome sequencing (WES) can identify molecular etiologies in autism spectrum disorder (ASD), particularly when ASD occurs with developmental delay/intellectual disability (DD/ID), epilepsy, dysmorphism, congenital anomalies, or neuroimaging abnormalities. Data on WES yield and candidate-gene findings in Turk...

Mehmet Burak Mutlu, A. Sanrı, O. Yaralı et al. · 0 citations
Oct 2026

Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study.

Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrine disorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical heterogeneity. In this multicenter retrospective study, we analyzed 23 patients from 18 families diagnosed across nine centers in Türkiye to characterize the...

Dilek Çelebi, Aslıhan Kiraz, Zakhiriddin Khojakulov et al. · 0 citations
Open access Sep 2026

Melatonin Protects BEAS‐2B Cells Against Hypoxia/Reoxygenation‐Induced Injury By Reducing MLKL Levels, Suppressing Oxidative Stress and Preserving Mitochondrial Function

It is suggested that melatonin protects BEAS‐2B cells against H/R‐induced injury, and that this protective effect may be associated with reduced oxidative stress, preservation of mitochondrial function, and suppression of necroptosis‐related signaling.

Zehra Yılmaz, Askin Tas, Ozlem Oz et al. · 0 citations

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