Show items per page
Elements: 42
Page 1 on 3
 TitleAuthors / EditorsDate
add to browser selection
A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77 Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie 2008
add to browser selection
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
add to browser selection
A single amino acid substitution in the novel H7N9 influenza A virus NS1 protein increases CPSF30 binding and virulence Ayllon, Juan; Domingues, Patricia; Rajsbaum, Ricardo; Miorin, Lisa; ... García-Sastre, Adolfo 2014
add to browser selection
A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha MacLean, Morag J.; Llordella, Marc Martínez; Bot, Nathalie; Picard, Didier 2005
add to browser selection
An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events Hamer, Isabelle; Foti, Michelangelo; Emkey, R; Cordier-Bussat, M; ... Carpentier, J-L 2002
add to browser selection
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003
add to browser selection
Both transmembrane domains of SecG contribute to signal sequence recognition by the Escherichia coli protein export machinery Bost, S.; Silva, Filo; Rudaz, C.; Belin, Dominique 2000
add to browser selection
COMT but not serotonin-related genes modulates the influence of childhood abuse on anger traits Perroud, Nader Ali; Jaussent, I.; Guillaume, Sébastien; Bellivier, F.; ... Courtet, P. 2010
add to browser selection
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2003
add to browser selection
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G 1998
add to browser selection
Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
add to browser selection
Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki 2003
add to browser selection
Fibrinogen gamma375 arg-->trp mutation (fibrinogen aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis Rubbia-Brandt, Laura; Neerman Arbez, Marguerite; Rougemont, A. L.; Male, P. J.; Spahr, Laurent 2006
add to browser selection
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F 2006
add to browser selection
Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre 2010
add to browser selection
Hierarchical assembly of the Alu domain of the mammalian signal recognition particle Weichenrieder, O; Stehlin, C; Kapp, U; Birse, D E; ... Cusack, S 2001
add to browser selection
High-throughput mass spectrometric discovery of protein post-translational modifications Wilkins, Marc; Gasteiger, Elisabeth; Gooley, Andrew A; Herbert, Ben R; ... Hochstrasser, Denis 1999
add to browser selection
Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation Von Planta, Maya; Humbert, James Ronald; Wacker, Pierre; Rimensberger, Peter; ... Beris, Photis 2001
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
Identification of site-specific adaptations conferring increased neural cell tropism during human enterovirus 71 infection Cordey, Samuel; Petty Ii, Thomas John; Schibler, Manuel; Martinez, Yannick; ... Tapparel, Caroline 2012
<< previous | 1 | 2 | 3 |