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	Title	Authors / Editors	Date
unige:2415	A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77	Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie	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:76387	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
unige:4581	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
unige:90658	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
unige:8725	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
unige:11168	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
unige:21208	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
unige:9079	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
unige:74566	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
unige:20617	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
unige:8828	Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse	Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki	2003
unige:127542	Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes	Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie	2019
unige:9006	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
unige:26615	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
unige:20997	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
unige:17514	Hierarchical assembly of the Alu domain of the mammalian signal recognition particle	Weichenrieder, O; Stehlin, C; Kapp, U; Birse, D E; ... Cusack, S	2001
unige:75374	High-throughput mass spectrometric discovery of protein post-translational modifications	Wilkins, Marc; Gasteiger, Elisabeth; Gooley, Andrew A; Herbert, Ben R; ... Hochstrasser, Denis	1999
unige:56147	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
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

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