LQ
Publications
16
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6,156
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1 - 16 of 16
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 17 65
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism : Insights from targeted exome sequencingPediatric Discovery
accessLevelPublic
2024 18 58
Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutantCommunications biology
accessLevelPublic
2023 103 81
Utilité clinique des genome boards pour les maladies génétiques complexesRevue médicale suisse
accessLevelPublic
2023 195 156
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosageClinical genetics
accessLevelPublic
2023 98 84
Benefits of exome sequencing in children with suspected isolated hearing lossGenes
accessLevelPublic
2021 317 452
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderClinical genetics
accessLevelPublic
2021 201 79
Genetic and clinic predictors of new onset diabetes mellitus after transplantationThe Pharmacogenomics Journal
2019 369 0
Genetic immune and inflammatory markers associated with diabetes in solid organ transplant recipientsAmerican Journal of Transplantation
accessLevelRestricted
2019 454 0
CRTC2 polymorphism as a risk factor for the incidence of metabolic syndrome in patients with solid organ transplantationPharmacogenomics journal
accessLevelRestricted
2017 707 0
Weighted Genetic Risk Scores and Prediction of Weight Gain in Solid Organ Transplant PopulationsPloS one
accessLevelPublic
2016 532 267
Association of genetic risk scores with body mass index in Swiss psychiatric cohortsPharmacogenetics and genomics
accessLevelRestricted
2016 571 0
Association of PCK1 with Body Mass Index and Other Metabolic Features in Patients With Psychotropic TreatmentsJournal of clinical psychopharmacology
accessLevelRestricted
2015 604 1
Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatmentsPharmacogenetics and genomics
accessLevelRestricted
2015 666 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 617 250
Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult populationJAMA psychiatry
accessLevelRestricted
2013 687 0
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