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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | 2026 | 9 | 78 | ||
| Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation | Kidney medicine | | 2025 | 18 | 33 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 195 | 156 |
