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 TitleAuthors / EditorsDate
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Transcriptome and genome sequencing uncovers functional variation in humans Lappalainen, Tuuli Emilia; Giger, Thomas; Padioleau, Ismael; Ongen, Halit; ... Dermitzakis, Emmanouil 2013
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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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Landscape of transcription in human cells Djebali, Sarah; Davis, Carrie A 2012
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A novel exon 3 mutation in a Tunisian patient with Lafora's disease Khiari, H Mrabet; Lesca, G; Malafosse, Alain; Mrabet, A 2011
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Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study Ross, Owen A 2011
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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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Human aldehyde dehydrogenase genes: alternatively spliced transcriptional variants and their suggested nomenclature Black, William J.; Stagos, Dimitrios; Marchitti, Satori A.; Nebert, Daniel W.; ... Vasiliou, Vasilis 2009
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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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
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A new HLA-DR4 allele, DRB1*0474, with an unusual residue at position 77 Desaules, Claire-Anne; Villard, Jean; Tiercy, Jean-Marie 2008
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project Birney, Ewan 2007
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ATAB2 is a novel factor in the signalling pathway of light-controlled synthesis of photosystem proteins Barneche, Frédy; Winter, Veronika; Crèvecoeur, Michèle; Rochaix, Jean-David 2006
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Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Wattenhofer, Marie; Reymond, Alexandre; Falciola, Veronique; Charollais, Anne; ... Antonarakis, Stylianos 2005
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Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment Dermitzakis, Emmanouil; Kirkness, Ewen; Schwarz, Scott; Birney, Ewan; ... Antonarakis, Stylianos 2004
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Association of the connexin36 gene with juvenile myoclonic epilepsy Mas, Christophe; Taske, N.; Deutsch, Samuel; Guipponi, Michel; ... Meda, Paolo 2004
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Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA) Attanasio, Catia; David, Armelle; Neerman Arbez, Marguerite 2003
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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
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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Isolation and initial characterization of the mouse Dnmt3l gene Aapola, Ulla; Lyle, Robert; Krohn, K.; Antonarakis, Stylianos; Peterson, P. 2001
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