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 TitleAuthors / EditorsDate
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Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene Perrin, G.; Morris, Michael Andréw; Antonarakis, Stylianos; Boltshauser, E.; Hutter, Pierre 1996
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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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The SH3D1A gene maps to human chromosome 21q22.1-->q22.2 Chen, H.; Antonarakis, Stylianos 1997
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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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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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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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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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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Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Antonarakis, Stylianos 1996
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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity Mehenni, H.; Gehrig, Corinne; Nezu, J.; Oku, A.; ... Antonarakis, Stylianos 1998
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Landscape of transcription in human cells Djebali, Sarah; Davis, Carrie A 2012
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Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 Blouin, Jean-Louis; Duriaux Sail, Geneviève; Guipponi, Michel; Rossier, Colette; ... Antonarakis, Stylianos 1998
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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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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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Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility Karayiorgou, M.; Gogos, J. A.; Galke, B. L.; Wolyniec, P. S.; ... Pulver, A. E. 1998
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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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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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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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Diverse modes of alternative splicing of human splicing factor SF1 deduced from the exon-intron structure of the gene Kraemer, Angela; Quentin, Mireille; Mulhauser, Frank 1998
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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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