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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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Biobank attributes associated with higher patient participation: a randomized study Gayet-Ageron, Angèle; Rudaz, Sandrine; Perneger, Thomas 2016
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Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A. von Kanel, Thomas; Stanke, Frauke; Weber, Melanie; Schaller, Andre; ... Gallati, Sabina 2013
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; ... Gleeson, Joseph G 2013
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity Esko, Tõnu; Mezzavilla, Massimo; Nelis, Mari; Borel, Christelle; Antonarakis, Stylianos 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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Discrepancies in reporting the CAG repeat lengths for Huntington's disease Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; ... Landwehrmeyer, G Bernhard 2012
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study Ehret, Georg Benedikt; O'Connor, Ashley A.; Weder, Alan; Cooper, Richard S.; Chakravarti, Aravinda 2009
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H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers Canu, Elisa; Boccardi, Marina; Ghidoni, Roberta; Benussi, Luisa; ... Frisoni, Giovanni 2009
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Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program Ehret, Georg Benedikt; Morrison, Alanna C.; O'Connor, Ashley A.; Grove, Megan L.; ... Chakravarti, Aravinda 2008
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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre 2008
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Influence of serotonin receptor 2A His452Tyr polymorphism on brain temporal structures: a volumetric MR study Filippini, Nicola; Scassellati, Catia; Boccardi, Marina; Pievani, Michela; ... Gennarelli, Massimo 2006
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DNA sequence variability of IGHG3 alleles associated to the main G3m haplotypes in human populations Dard, Patricia; Lefranc, Marie-Paule; Osipova, Ludmilla; Sanchez-Mazas, Alicia 2001
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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping Kibar, Z.; Dube, M. P.; Powell, J.; McCuaig, C.; ... Rouleau, G. A. 2000
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Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity Blouin, Jean-Louis; Meeks, M.; Radhakrishna, U.; Sainsbury, A.; ... Antonarakis, Stylianos 2000
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Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations Belledi, M.; Poloni, Estella S.; Casalotti, R.; Conterio, F.; ... Excoffier, Laurent Georges Louis 2000
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A linkage disequilibrium map of the MHC region based on the analysis of 14 loci haplotypes in 50 French families Sanchez-Mazas, Alicia; Djoulah, S.; Busson, M.; Le Monnier de Gouville, I.; ... Hors, J. 2000
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Inferring the impact of linguistic boundaries on population differentiation: application to the Afro-Asiatic–Indo-European case Dupanloup De Ceuninck, Isabelle; Schneider, Stefan; Langaney, André; Excoffier, Laurent Georges Louis 2000
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