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| 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 | 1 | 0 | ||
| Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | | 2024 | 112 | 125 | ||
| Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR | Clinical & experimental allergy |  | 2024 | 97 | 0 | ||
| Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant | Communications biology | | 2023 | 97 | 70 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 183 | 115 | ||
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | 2023 | 95 | 68 | ||
| Severe and Early Hepatic Failure in A Neonate: A New CFTR Mutation Associated with Medium-Chain Acyl-CoA Deficiency | Frontiers in Medical Case Reports | | 2021 | 109 | 93 | ||
| Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations | Journal of diabetes investigation | | 2021 | 81 | 211 | ||
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | 2021 | 376 | 431 | ||
| Tissue-plasma TMB comparison and plasma TMB monitoring in patients with metastatic non-small cell lung cancer receiving immune checkpoint inhibitors | Frontiers in Oncology | | 2020 | 295 | 260 | ||
| Maladie de Rendu-Osler-Weber : importance d'une prise en charge multidisciplinaire | Revue médicale suisse | | 2016 | 653 | 1 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 742 | 296 | ||
| Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2 | Nature | | 1993 | 666 | 0 |
