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 TitleAuthors / EditorsDate
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed 2016
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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
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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
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Assessment of transcript reconstruction methods for RNA-seq Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos 2013
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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
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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
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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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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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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
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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
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison 2011
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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
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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
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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To aggregate or not to aggregate Neerman Arbez, Marguerite 2007
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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
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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
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Gene finding in the chicken genome Eyras, Eduardo; Reymond, Alexandre; Castelo, Robert; Bye, J. M.; ... Brent, M. R. 2005
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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
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes Castelo, Robert; Reymond, Alexandre; Wyss, Carine; Camara, Francisco; ... Eyras, Eduardo 2005
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