Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Thamissarakul S (2026). [PMID: 41675269](https://pubmed.ncbi.nlm.nih.gov/41675269/). *Case Rep Genet*. [Basic Science / Preclinical]
Sai Ramya V (2026). [PMID: 41837231](https://pubmed.ncbi.nlm.nih.gov/41837231/). *JCEM Case Rep*. [Case Report / Case Series]
Öztürk M (2025). [PMID: 40461715](https://pubmed.ncbi.nlm.nih.gov/40461715/). *Eur J Pediatr*. [Epidemiology / Natural History]
Özalp M (2025). [PMID: 40368527](https://pubmed.ncbi.nlm.nih.gov/40368527/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Yamashita R (2025). [PMID: 40141107](https://pubmed.ncbi.nlm.nih.gov/40141107/). *Int J Mol Sci*. [Basic Science / Preclinical]
Daşar T (2025). [PMID: 39618316](https://pubmed.ncbi.nlm.nih.gov/39618316/). *Am J Med Genet A*. [Case Report / Case Series]
Öztürk M (2025). [PMID: 39989222](https://pubmed.ncbi.nlm.nih.gov/39989222/). *Cardiol Young*. [Case Report / Case Series]
Piwar H (2024). [PMID: 39273648](https://pubmed.ncbi.nlm.nih.gov/39273648/). *Int J Mol Sci*. [Review / Meta-Analysis]
Gramegna Tota C (2024). [PMID: 39334831](https://pubmed.ncbi.nlm.nih.gov/39334831/). *Biomolecules*. [Basic Science / Preclinical]
