Show items per page
Elements: 87
Page 1 on 5
 TitleAuthors / EditorsDate
add to browser selection
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Skipper, Kristian A; ... Mogensen, Trine H 2017
add to browser selection
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
add to browser selection
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
add to browser selection
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
add to browser selection
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
add to browser selection
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
add to browser selection
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration van der Zee, Julie 2014
add to browser selection
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
add to browser selection
NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz 2012
add to browser selection
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis 2012
add to browser selection
Identification of VPS35 mutations replicated in French families with Parkinson disease Lesage, S; Condroyer, C; Klebe, S; Honoré, A; ... Brice, A 2012
add to browser selection
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
add to browser selection
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
add to browser selection
Dépistage néonatal systématique de la mucoviscidose en Suisse: dès janvier 2011 Mornand, Anne; Barben, Jürg; Hafen, Gaudenz 2011
add to browser selection
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
add to browser selection
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
add to browser selection
Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
add to browser selection
Rhinovirus genome evolution during experimental human infection Cordey, Samuel; Junier, Thomas; Gerlach, Daniel; Gobbini, Francesca; ... Kaiser, Laurent 2010
add to browser selection
A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010
add to browser selection
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
<< previous | 1 | 2 | 3 | 4 | 5 |