| Title | Authors / Editors | Date |
unige:96873 |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy |
Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed |
2016 |
unige:89650 |
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors |
van de Bunt, Martijn; Manning Fox, Jocelyn E; Dai, Xiaoqing; Barrett, Amy; ... Gloyn, Anna L |
2015 |
unige:102922 |
Haplotype diversity generated by ancient recombination-like events in the MHC of Indian rhesus macaques |
Doxiadis, Gaby G M; de Groot, Nanine; Otting, Nel; de Vos-Rouweler, Annemiek J M; ... Bontrop, Ronald E |
2013 |
unige:34630 |
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature |
Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline |
2013 |
unige:42242 |
Assessment of transcript reconstruction methods for RNA-seq |
Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos |
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:34648 |
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus |
Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos |
2012 |
unige:32726 |
Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family |
Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis |
2011 |
unige:32728 |
A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family |
Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite |
2011 |
unige:79941 |
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia |
Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison |
2011 |
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:19886 |
Sequence of a novel HLA-A2 allele in a haematopoietic stem cell donor of the international registry |
Kervaire, B.; Schmidt, A. H.; Villard, Jean; Tiercy, Jean-Marie |
2009 |
unige:9167 |
Efficient targeted transcript discovery via array-based normalization of RACE libraries |
Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic |
2008 |
unige:148712 |
Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome |
Le Brun Keris, Yann; Jouk, Pierre-Simon; Saada-Sebag, Géraldine; Roux, Jean-Jacques; ... Lespinasse, James |
2008 |
unige:8715 |
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions |
Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; ... Reymond, Alexandre |
2007 |
unige:8925 |
To aggregate or not to aggregate |
Neerman Arbez, Marguerite |
2007 |
unige:8929 |
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations |
Neerman Arbez, Marguerite; De Moerloose, Philippe |
2007 |
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:9169 |
Gene finding in the chicken genome |
Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. |
2005 |