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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie 2019
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Role of Gag mutations in PI resistance in the Swiss HIV cohort study: bystanders or contributors? Kletenkov, K; Hoffmann, D; Böni, J; Yerly Ferrillo, Sabine; ... Klimkait, T 2017
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H 2017
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria 2017
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Droplet digital PCR to investigate quasi-species at codons 119 and 275 of the A(H1N1)pdm09 neuraminidase during zanamivir and oseltamivir therapies Abed, Yacine; Carbonneau, Julie; L'Huillier, Arnaud; Kaiser, Laurent; Boivin, Guy 2017
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators 2016
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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard 2011