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	Title	Authors / Editors	Date
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: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: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:9094	A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein	Wattenhofer, Marie; Sahin-Calapoglu, Nilufer; Andreasen, Ditte; Kalay, Ersan; ... Antonarakis, Stylianos	2005
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:8725	Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome	Deutsch, Samuel; Rideau, Alexandra; Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis	2003
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
unige:73868	beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.	Horikawa, Yohko; Horikawa, Yukio; Cox, Nancy J.; Iwasaki, Naoko; ... Bell, Graeme I.	2000
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: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: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:8814	DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut	2006
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: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: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: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:8754	Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency	Germanos-Haddad, Myrna; De Moerloose, Philippe; Boehlen, Françoise; Peyvandi, Flora; Neerman Arbez, Marguerite	2005
unige:9080	Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion	Vu, Dung; De Moerloose, Philippe; Batorova, A.; Lazur, J.; ... Neerman Arbez, Marguerite	2005
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:8901	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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