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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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A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y Chen, H.; Rossier, Colette; Morris, Michael Andréw; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly Vargas, F. R.; Roessler, E.; Gaudenz, K.; Belloni, E.; ... Muenke, M. 1998
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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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Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Maiti, A. K.; Sainsbury, A.; ... Antonarakis, Stylianos 2001
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C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos 2000
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Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3 Chen, H.; Rossier, Colette; Nakamura, Y.; Lynn, A.; ... Antonarakis, Stylianos 1997
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Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome Giacobino, Ariane; Chen, H.; Antonarakis, Stylianos 1997
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Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3 Chen, H.; Bouras, Constantin; Antonarakis, Stylianos 1996
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Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3 Chen, H.; Rossier, Colette; Lalioti, M. D.; Lynn, A.; ... Antonarakis, Stylianos 1996
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Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2 Chen, H.; Morris, Michael Andréw; Rossier, Colette; Blouin, Jean-Louis; Antonarakis, Stylianos 1995
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Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 Giacobino, Ariane; Chen, Haiming; Peitsch, M. C.; Rossier, Colette; Antonarakis, Stylianos 1997
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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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Comparative genome and proteome analysis of Anopheles gambiae and Drosophila melanogaster Zdobnov, Evgeny; von Mering, Christian; Letunic, Ivica; Torrents, David; ... Bork, Peer 2002
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Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes Guigo, Roderic; Dermitzakis, Emmanouil; Agarwal, Pankaj; Ponting, C. P.; ... Brent, M. R. 2003
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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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Drosophila melanogaster acetylcholinesterase gene. Structure, evolution and mutations Fournier, D.; Karch, François; Bride, J M.; Hall, Lucinda M. C.; ... Spierer, Pierre 1989
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Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc 2000
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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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Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene Hutter, P.; Antonarakis, Stylianos; Delozier-Blanchet, C. D.; Morris, Michael Andréw 1994
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