Williams A (2026). [PMID: 41937280](https://pubmed.ncbi.nlm.nih.gov/41937280/). *Am J Med Genet A*. [Diagnostic / Biomarker]
Tan MY (2026). [PMID: 42135233](https://pubmed.ncbi.nlm.nih.gov/42135233/). *Zhonghua Er Ke Za Zhi*. [Epidemiology / Natural History]
Zhang C (2025). [PMID: 40695512](https://pubmed.ncbi.nlm.nih.gov/40695512/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Basic Science / Preclinical]
Yildiz SO (2025). [PMID: 41573617](https://pubmed.ncbi.nlm.nih.gov/41573617/). *Sisli Etfal Hastan Tip Bul*. [Epidemiology / Natural History]
Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metab Brain Dis*. [Epidemiology / Natural History]
Klaassen K (2025). [PMID: 40473815](https://pubmed.ncbi.nlm.nih.gov/40473815/). *Sci Rep*. [Basic Science / Preclinical]
Balasar Ö (2025). [PMID: 39039323](https://pubmed.ncbi.nlm.nih.gov/39039323/). *Biochem Genet*. [Gene Therapy / Novel Therapeutics]
Liu S (2025). [PMID: 40763961](https://pubmed.ncbi.nlm.nih.gov/40763961/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Epidemiology / Natural History]
Nunes AJ (2025). [PMID: 40426720](https://pubmed.ncbi.nlm.nih.gov/40426720/). *Children (Basel)*. [Basic Science / Preclinical]
Zhang C (2025). [PMID: 40420248](https://pubmed.ncbi.nlm.nih.gov/40420248/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
