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 TitleAuthors / EditorsDate
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αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia Buitrago, Lorena; Rendon, Augusto; Liang, Yupu 2015
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Limited clinical benefit of minority K103N and Y181C-variant detection in addition to routine genotypic resistance testing in antiretroviral therapy-naive patients Metzner, Karin J; Scherrer, Alexandra U; von Wyl, Viktor; Böni, Jürg; ... Günthard, Huldrych F 2014
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A cohort study of treatment-experienced HIV-1-infected patients treated with raltegravir: factors associated with virological response and mutations selected at failure Marcelin, Anne-Geneviève; Delaugerre, Constance; Beaudoux, Céline; Descamps, Diane; ... Flandre, Philippe 2013
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HIV-1 integrase variability and relationship with drug resistance in antiretroviral-naive and -experienced patients with different HIV-1 subtypes Reigadas, S; Marcelin, A G; Houssaïni, A; Yerly Ferrillo, Sabine; ... Masquelier, B 2013
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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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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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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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The influenza virus protein PB1-F2 inhibits the induction of type I interferon at the level of the MAVS adaptor protein Varga, Zsuzsanna T; Ramos, Irene; Hai, Rong; Schmolke, Mirco; ... Palese, Peter 2011
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A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1 Dirlewanger, Mijam; Huser, Delphine; Zennaro, Maria-Christina; Girardin, Eric; ... Schwitzgebel Luscher, Valérie 2011
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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The cytotoxic T lymphocyte protease granzyme A cleaves and inactivates poly(adenosine 5'-diphosphate-ribose) polymerase-1 Zhu, Pengcheng; Martinvalet, Denis; Chowdhury, Dipanjan; Zhang, Dong; ... Lieberman, Judy 2009
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Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, Géraldine; Labuda, Malgorzata; Gagné, Vincent; ... Krajinovic, Maja 2009
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Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis 2009
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Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mutation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function Undas, Anetta; Zdziarska, Joanna; Iwaniec, Teresa; Stepien, Ewa; ... Neerman Arbez, Marguerite 2009
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An invariant surface patch on the TRIM5alpha PRYSPRY domain is required for retroviral restriction but dispensable for capsid binding Sebastian, Sarah; Grutter, Christian; Strambio de Castillia, Caterina; Pertel, Thomas; ... Luban, Jeremy 2009
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Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient rimella-le huu, a; Henry, H; Kern, Ilse; Hanquinet, Sylviane; ... Ballhausen, D 2008
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A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis Robert-Ebadi, Helia; Le Querrec, Agnès; De Moerloose, Philippe; Gandon-Laloum, Sylvie; ... Neerman Arbez, Marguerite 2008
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Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 Bottani, Armand; Orrico, Alfredo; Galli, Lucia; Karam, Oliver Laurent; ... Conrad, Bernard 2007
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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