| DOI | Case ID | Title | Created |
|---|---|---|---|
| https://doi.org/10.60723/14383 | 14383 | A familial case of KMT5B-associated autosomal dominant neurodevelopmental disorder | 18.5.2025 |
| https://doi.org/10.60723/10693 | 10693 | Atypical presentation of a case with Noonan syndrome with multiple lentigines | 22.2.2024 |
| https://doi.org/10.60723/11640 | 11640 | Homozygous missense-variant in ECEL1 causing Distal Arthrogryposis Type 5D | 24.5.2024 |
| https://doi.org/10.60723/11384 | 11384 | Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child | 21.4.2024 |
| https://doi.org/10.60723/11212 | 11212 | PORETTI-BOLTSHAUSER SYNDROME | 29.3.2024 |
| https://doi.org/10.60723/10838 | 10838 | 5.3.2024 |
You can apply for a micropublication DOI for your case reports by adding at least one photo, at least one HPO term, and at least one disease gene to a case and then press the "Request DOI" button on the patient page.