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 TitleAuthors / EditorsDate
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Conserved non-genic sequences - an unexpected feature of mammalian genomes Dermitzakis, Emmanouil; Reymond, Alexandre; Antonarakis, Stylianos 2005
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Conserved noncoding sequences are selectively constrained and not mutation cold spots Drake, J. A.; Bird, Christine; Nemesh, James; Thomas, D. J.; ... Hirschhorn, J. N. 2006
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Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3 Lapenta, V.; Sossi, V.; Gosset, P.; Vayssettes, C.; ... Brahe, C. 1998
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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability Beckmann, J. S.; Estivill, Xavier; Antonarakis, Stylianos 2007
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Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Santoni, Federico; ... Feki, Anis 2014
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing Stevant, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge 2018
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Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia Neerman Arbez, Marguerite; Honsberger, A.; Antonarakis, Stylianos; Morris, Michael Andréw 1999
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DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy Picard, Fabienne; Makrythanasis, Periklis; Navarro, Vincent; Ishida, Saeko; ... Baulac, Stéphanie 2014
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Detection of aneuploidies by paralogous sequence quantification Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos 2004
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Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing Nikolaev, S. I.; Iseli, Christian; Sharp, A. J.; Robyr, Daniel; ... Antonarakis, Stylianos 2009
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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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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Differential gene expression studies to explore the molecular pathophysiology of Down syndrome Antonarakis, Stylianos; Lyle, Robert; Chrast, R.; Scott, Hamish Steele 2001
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Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors Giacobino, Ariane; Rey-Berthod, Claudine; Couturier, Alexia; Antonarakis, Stylianos; Hutter, Pierre 2002
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Dinucleotide repeat polymorphism within ERCC5 gene Samec, S.; Clarkson, S. G.; Blaschak, J.; Chakravarti, A.; ... Antonarakis, Stylianos 1994
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Discussion on mutation nomenclature Cotton, R. G. H.; Kazazian, H. H.; Antonarakis, Stylianos; McKusick, V. A. 1994
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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Disease-causing mutations in the human genome Antonarakis, Stylianos; Krawczak, M.; Cooper, D. N. 2000
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DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg Weinhaeusel, Andreas; Morris, Michael Andréw; Antonarakis, Stylianos; Haas, O. A. 2003
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