OZ
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1 - 9 of 9
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
accessLevelPublic
2026 9 78
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
Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding AssessmentChild neurology open
accessLevelPublic
2023 77 72
Lupus induit et DRESS : effet indésirable rare mais redoutable de la mésalazine
accessLevelPublic
2023 244 59
Drug-induced hypersensitivity syndrome with lupus manifestations due to mesalazine in a patient with ulcerative colitisBMJ case reports
accessLevelRestricted
2022 273 0
A Model to Investigate Single-Strand DNA Responses in G1 Human Cells via a Telomere-Targeted, Nuclease-Deficient CRISPR-Cas9 SystemPloS one
accessLevelPublic
2017 80 45
Microcollimator for Micrometer-Wide Stripe Irradiation of Cells Using 20–30 keV X RaysRadiation research
accessLevelRestricted
2009 72 0
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