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 TitleAuthors / EditorsDate
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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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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APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich 2016
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos 2014
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration van der Zee, Julie 2014
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Contribution of teg49 small RNA in the 5' upstream transcriptional region of sarA to virulence in Staphylococcus aureus Kim, Samin; Reyes, Dindo; Beaume, Marie-Emilie; Francois, Patrice; Cheung, Ambrose L. 2014
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Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia Beldjord, Kheira; Chevret, Sylvie; Asnafi, Vahid; Huguet, Françoise; ... Dombret, Hervé 2014
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Characterization of Streptococcus tigurinus small-colony variants causing prosthetic joint infection by comparative whole-genome analyses Zbinden, Andrea; Quiblier, Chantal; Hernandez, David; Herzog, Kathrin; ... Francois, Patrice 2014
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid 2013
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NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz 2012
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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis 2012
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Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta 2011
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Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011 Mornand, Anne; Barben, Jürg; Hafen, Gaudenz 2011
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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010
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Telomere length is not predictive of dementia or MCI conversion in the oldest old Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz 2010
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