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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 dysplasiaBrain and development. Case reports
accessLevelPublic
2024 7 30
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencingPediatric Discovery
accessLevelPublic
2024 9 8
Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutantCommunications biology
accessLevelPublic
2023 93 59
Utilité clinique des genome boards pour les maladies génétiques complexesRevue médicale suisse
accessLevelPublic
2023 167 69
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosageClinical genetics
accessLevelPublic
2023 88 52
Benefits of exome sequencing in children with suspected isolated hearing lossGenes
accessLevelPublic
2021 307 287
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderClinical genetics
accessLevelPublic
2021 181 52
Genetic and clinic predictors of new onset diabetes mellitus after transplantationThe Pharmacogenomics Journal
2019 364 0
Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipientsAmerican Journal of Transplantation
accessLevelRestricted
2019 446 0
CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantationPharmacogenomics journal
accessLevelRestricted
2017 703 0
Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant PopulationsPloS one
accessLevelPublic
2016 526 228
Association of genetic risk scores with body mass index in Swiss psychiatric cohortsPharmacogenetics and genomics
accessLevelRestricted
2016 566 0
Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic TreatmentsJournal of clinical psychopharmacology
accessLevelRestricted
2015 599 1
Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatmentsPharmacogenetics and genomics
accessLevelRestricted
2015 660 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 DepressionPloS one
accessLevelPublic
2015 612 211
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult populationJAMA psychiatry
accessLevelRestricted
2013 681 0
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