Author

Anila Babameto-Laku

Mother Teresa University Hospital Center, Faculty of Medicine, Tirana, Albania

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Open access Jan 2026

Clinical and Genetic Spectrum of Large AIP Deletions

Two novel large AIP deletions are reported here and three additional three families, including an Albanian kindred associated with metastatic Hürthle cell thyroid carcinoma, are reported, including an Albanian kindred associated with metastatic Hürthle cell thyroid carcinoma.

T. S. Kolnikaj, Maren Ruka, A. Xhumari et al. · Human Mutation · 0 citations

Open access Jun 2026

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases

The identification of both novel and previously reported pathogenic variants expands the mutational spectrum of PURA and underscores the importance of integrating clinical, molecular, and bioinformatic data for accurate variant interpretation.

A. Madej-Pilarczyk, Marzena Gawlik, Beata Chałupczyńska et al. · Genes · 0 citations