PK
| 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 | ||
| Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations | Journal of medical genetics | | 2025 | 7 | 114 | ||
| Syndromes de Marfan et apparentés | Revue médicale suisse |  | 2025 | 15 | 0 | ||
| ACTB deletions or single-nucleotide loss-of-function variants : expansion and further delineation of the phenotype and review of the literature | Journal of medical genetics | | 2025 | 11 | 0 | ||
| PFMG2025-integrating genomic medicine into the national healthcare system in France | The Lancet regional health. Europe | | 2025 | 12 | 13 | ||
| A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP) : the SESAM study protocol | BMJ open | | 2024 | 10 | 223 | ||
| Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study | Orphanet journal of rare diseases | | 2024 | 7 | 118 | ||
| Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies : 3.5% of all positive cases | Journal of medical genetics | | 2023 | 9 | 0 | ||
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Genetics in medicine | | 2023 | 9 | 79 | ||
| Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome | European journal of human genetics | | 2009 | 12 | 94 | ||
| Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus | Nature genetics | | 2006 | 12 | 0 |
