| Title | Authors / Editors | Date |
unige:83343 |
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia |
Buitrago, Lorena; Rendon, Augusto; Liang, Yupu |
2015 |
unige:74401 |
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 |
unige:74512 |
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 |
unige:73681 |
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 |
unige:32312 |
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia |
Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite |
2012 |
unige:32314 |
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 |
unige:161989 |
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy |
Salzmann, Annick; Guipponi, Michel; Lyons, Peter J; Fricker, Lloyd D; ... Malafosse, Alain |
2012 |
unige:32871 |
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 |
unige:75390 |
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 |
unige:25735 |
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 |
unige:8901 |
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects |
Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis |
2010 |
unige:43455 |
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 |
unige:19613 |
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 |
unige:20097 |
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 |
unige:9051 |
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 |
unige:9061 |
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 |
unige:5480 |
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 |
unige:44116 |
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 |
unige:1432 |
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 |
unige:44539 |
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 |