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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia | Brain and development. Case reports |  | 2024 | 12 | 43 | ||
| A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencing | Pediatric Discovery | | 2024 | 12 | 30 | ||
| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | 2023 | 97 | 66 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 179 | 96 | ||
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | 2023 | 92 | 66 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 309 | 358 | ||
| ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder | Clinical genetics | | 2021 | 191 | 61 | ||
| Genetic and clinic predictors of new onset diabetes mellitus after transplantation | The Pharmacogenomics Journal | 2019 | 365 | 0 | |||
| Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipients | American Journal of Transplantation |  | 2019 | 450 | 0 | ||
| CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantation | Pharmacogenomics journal | | 2017 | 705 | 0 | ||
| Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant Populations | PloS one | | 2016 | 528 | 244 | ||
| Association of genetic risk scores with body mass index in Swiss psychiatric cohorts | Pharmacogenetics and genomics | | 2016 | 568 | 0 | ||
| Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic Treatments | Journal of clinical psychopharmacology | | 2015 | 602 | 1 | ||
| Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments | Pharmacogenetics and genomics | | 2015 | 664 | 0 | ||
| Influence of MCHR2 and MCHR2-AS1 Genetic Polymorphisms on Body Mass Index in Psychiatric Patients and In Population-Based Subjects with Present or Past Atypical Depression | PloS one | | 2015 | 614 | 228 | ||
| Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population | JAMA psychiatry | | 2013 | 684 | 0 |
