Zhang J (2026). [PMID: 40964751](https://pubmed.ncbi.nlm.nih.gov/40964751/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Tian FY (2026). [PMID: 41946590](https://pubmed.ncbi.nlm.nih.gov/41946590/). *Zhonghua Yi Xue Za Zhi*. [Other]
Molinari S (2026). [PMID: 40977560](https://pubmed.ncbi.nlm.nih.gov/40977560/). *American journal of medical genetics. Part A*. [Diagnostic / Biomarker]
Fridman C (2025). [PMID: 40021560](https://pubmed.ncbi.nlm.nih.gov/40021560/). *International journal of legal medicine*. [Review / Meta-Analysis]
Magliulo S (2025). [PMID: 40543848](https://pubmed.ncbi.nlm.nih.gov/40543848/). *European journal of medical genetics*. [Case Report / Case Series]
Akiyama M (2025). [PMID: 39913008](https://pubmed.ncbi.nlm.nih.gov/39913008/). *CEN case reports*. [Diagnostic / Biomarker]
Iwanishi M (2025). [PMID: 38749734](https://pubmed.ncbi.nlm.nih.gov/38749734/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Huang Y (2025). [PMID: 40799956](https://pubmed.ncbi.nlm.nih.gov/40799956/). *Practical laboratory medicine*. [Case Report / Case Series]
Panchenko E (2025). [PMID: 40943441](https://pubmed.ncbi.nlm.nih.gov/40943441/). *International journal of molecular sciences*. [Case Report / Case Series]
Larsen IG (2024). [PMID: 39494246](https://pubmed.ncbi.nlm.nih.gov/39494246/). *Biological psychiatry global open science*. [Epidemiology / Natural History]
