CM
Marconi, Caroline Baya Catherine
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencing | Pediatric Discovery |  | 2024 | 24 | 75 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 175 | 124 |
