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Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1 Beiraghi, Soraya; Nath, S. K.; Gaines, Matthew; Mandhyan, D. D.; ... Radhakrishna, Uppala 2007
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
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No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome Glaser, Bronwyn; Debbané, Martin; Hinard, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2006
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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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Connexin37 protects against atherosclerosis by regulating monocyte adhesion Wong Christen, Cindy Wai Yin; Christen, Thomas; Roth, Isabelle; Chadjichristos, Christos; ... Kwak, Brenda 2006
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ATM alterations in childhood non-Hodgkin lymphoma Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, David R; Sappino, Pascal 2006
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Entre sel et gènes ou pharmacogénomique des antihypertenseurs Ernandez, Thomas; Pechere, Antoinette; Dayer, Pierre; Desmeules, Jules Alexandre 2006
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ATM variants and predisposition to childhood T-lineage acute lymphoblastic leukaemia Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, D R; Sappino, Pascal 2006
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Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis Naveed, Mohammed; Al-Ali, M. T.; Murthy, S. K.; Al-Hajali, Sarah; ... Radhakrishna, Uppala 2006
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha MacLean, Morag J.; Llordella, Marc Martínez; Bot, Nathalie; Picard, Didier 2005
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Polymorphisme génétique et interactions médicamenteuses: leur importance dans le traitement de la douleur Samer, Caroline Flora; Piguet, Valérie; Dayer, Pierre; Desmeules, Jules Alexandre 2005
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Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains Adams, D. J.; Dermitzakis, Emmanouil; Cox, Tony; Smith, James; ... Bradley, Allan 2005
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Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass Ferrari, Serge Livio; Deutsch, Samuel; Antonarakis, Stylianos 2005
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LRP5 gene polymorphisms and idiopathic osteoporosis in men Ferrari, Serge Livio; Deutsch, Samuel; Baudoin, C.; Cohen-Solal, M.; ... de Vernejoul, M. C. 2005
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COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome Gothelf, Doron; Eliez, Stéphan; Thompson, Tracy; Hinard, Christine; ... Reiss, A. L. 2005
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The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants Yip Sonderegger, Yum Lina; Scheib, Holger; Diemand, Alexander; Gattiker, Alexandre; ... Bairoch, Amos Marc 2004
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The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study Felley, Christian; Morris, Michael Andréw; Wonkam, Ambroise; Hirschel, Bernard; ... Frossard, Jean-Louis 2004
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin Menzel, Olivier; Bekkeheien, R. C.; Reymond, Alexandre; Fukai, Naomi; ... Guipponi, Michel 2004
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