| DOI | Case ID | Title | Created |
|---|---|---|---|
| https://doi.org/10.60723/14032 | 14032 | Verheij Syndrome with normal intelligence after a 10-year diagnostic odyssey | 17.4.2025 |
| https://doi.org/10.60723/14021 | 14021 | GestaltMatcher facial analysis helped confirm the diagnosis of Chung-Jansen Syndrome | 16.4.2025 |
| https://doi.org/10.60723/11041 | 11041 | Novel ZBTB20 variant in a patient with Primrose syndrome | 20.3.2024 |
| https://doi.org/10.60723/9974 | 9974 | A case of PSMC5-associated neurodevelopmental proteasomopathy | 3.1.2024 |
| https://doi.org/10.60723/10886 | 10886 | Case report of x-linked spinal and bulbar muscular atrophy with pronounced facial muscle atrophy and fasciculations | 8.3.2024 |
| https://doi.org/10.60723/7155 | 7155 | Novel De Novo KMT2A Missense Variant in a Boy with Wiedemann-Steiner Syndrome | 17.6.2022 |
| https://doi.org/10.60723/7104 | 7104 | Novel Homozygous SCARF2 Nonsense Variant in Two Siblings with Van den Ende-Gupta Syndrome | 13.5.2022 |
| https://doi.org/10.60723/11173 | 11173 | Expanding the Clinical Presentation of Wisconsin Syndrome: A 3q24q25.3 Deletion Including ZIC1 and ZIC4 | 28.3.2024 |
| https://doi.org/10.60723/15254 | 15254 | A homozygous synonymous NOP58 variant associated with a novel ribosomopathy | 18.9.2025 |
| https://doi.org/10.60723/8277 | 8277 | CTNNB1 Syndrome with Spinal Lipoma: A Case Report Highlighting Medullary Involvement | 21.11.2022 |
| https://doi.org/10.60723/9315 | 9315 | Molecular autopsy leading to the diagnosis of TBCK-associated disorder | 16.6.2023 |
| https://doi.org/10.60723/11244 | 11244 | Novel de novo JAG1 frameshift mutation in Alagille syndrome with early liver transplant requirement | 2.4.2024 |
| https://doi.org/10.60723/9281 | 9281 | Case report of a girl with NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA (ZMIZ1 related) | 1.6.2023 |
| https://doi.org/10.60723/9903 | 9903 | From Face to Function: SEC24C Deficiency Mimics GPI-Anchor Biosynthesis Disorder | 19.12.2023 |
| https://doi.org/10.60723/11221 | 11221 | SATB2-associated syndrome and a splice-site variant | 31.3.2024 |
| https://doi.org/10.60723/9660 | 9660 | Clinical Variability in MECP2 Duplication Syndrome: Highlighting Sialorrhea as the Daily Challenge | 8.9.2023 |
| 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 |
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.