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 TitleAuthors / EditorsDate
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αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia Buitrago, Lorena; Rendon, Augusto; Liang, Yupu 2015
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Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study Quintana-Murci, L.; Semino, O.; Poloni, Estella S.; Liu, A.; ... Santachiara-Benerecetti, A S. 1999
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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War exposure, 5-HTTLPR genotype and lifetime risk of depression Artero, Sylvaine; Touchon, Jacques; Dupuy, Anne-Marie; Malafosse, Alain; Ritchie, Karen 2011
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Type I and type II psoriasis show a similar usage of T-cell receptor variable regions Schmitt-Egenolf, M.; Boehncke, Wolf-Henning; Christophers, Enno; Stander, M.; Sterry, Wolfram 1991
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Kern, Ilse 2011
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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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TORC1 organized in inhibited domains (TOROIDs) regulate TORC1 activity Prouteau, Manoel; Desfosses, Ambroise; Sieben, Christian; Bourgoint, Clelia; ... Loewith, Robbie Joséph 2017
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TNFA -308G>A in two international population-based cohorts and risk of asthma Castro-Giner, F.; Kogevinas, M.; Mächler, M.; de Cid, R.; ... Probst-Hensch, Nicole M. 2008
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Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing Gutierrez Arcelus, Maria; Ongen, Halit; Lappalainen, Tuuli Emilia; Montgomery, Stephen; ... Dermitzakis, Emmanouil 2015
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The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Talbot, C. C.; Avramopoulos, D.; Gerken, S.; Chakravarti, A.; ... Antonarakis, Stylianos 1995
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The TATA-binding protein-associated factor yTafII19p functionally interacts with components of the global transcriptional regulator Ccr4-Not complex and physically interacts with the Not5 subunit Lemaire, Marc; Collart, Martine 2000
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The probability of identifying a 10/10 HLA allele-matched unrelated donor is highly predictable Tiercy, Jean-Marie; Nicoloso, G; Passweg, Jakob; Schanz, U; ... Gratwohl, Alois 2007
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The mouse Hoxd13spdh mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes Bruneau, Sylvia; Johnson, Kenneth R.; Yamamoto, Masakazu; Kuroiwa, Atsushi; Duboule, Denis 2001
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The molecular determination of HLA-Cw alleles in the Mandenka (West Africa) reveals a close genetic relationship between Africans and Europeans Sanchez-Mazas, Alicia; Steiner, Q G.; Grundschober, C.; Tiercy, Jean-Marie 2000
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The molecular chaperone Cdc37 is required for Ste11 function and pheromone-induced cell cycle arrest Abbas-Terki, Toufik; Donze, Olivier; Picard, Didier 2000
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The HLA-B landscape of Africa: Signatures of pathogen-driven selection and molecular identification of candidate alleles to malaria protection Sanchez-Mazas, Alicia; Černý, Viktor; Di, Da; Buhler, Stéphane; ... Nunes, Jose Manuel 2017
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The genomic silencing of position-effect variegation in Drosophila melanogaster: interaction between the heterochromatin-associated proteins Su(var)3-7 and HP1 Delattre, Marion; Spierer-Royer, Anne; Tonka, Chia-Hwa; Spierer, Pierre 2000
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The forensic use of behavioral genetics in criminal proceedings: Case of the MAOA-L genotype McSwiggan, Sally; Elger, Bernice Simone; Appelbaum, Paul S 2017
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The essential function of Not1 lies within the Ccr4-Not complex Maillet, Laurent Jean Marie; Tu, Chi; Hong, Y K; Shuster, E O; Collart, Martine 2000
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The effect of apolipoprotein polymorphism on brain in mild cognitive impairment: a voxel-based morphometric study Pennanen, Corina; Testa, Cristina; Boccardi, Marina; Laakso, Mikko P; ... Soininen, Hilkka 2006
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The distribution of MICA alleles in an Austrian population: evidence for increasing polymorphism Wenda, Sabine; Faé, Ingrid; Sanchez-Mazas, Alicia; Nunes, Jose Manuel; ... Fischer, Gottfried F 2013
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Telomere length and ApoE polymorphism in mild cognitive impairment, degenerative and vascular dementia Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Graf, Cristophe; ... Krause, Karl-Heinz 2010
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Stereoselective block of hERG channel by (S)-methadone and QT interval prolongation in CYP2B6 slow metabolizers Eap, C B.; Crettol, S.; Rougier, J-S.; Schläpfer, J.; ... Abriel, H. 2007
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Stereoselective block of hERG channel by (S)-methadone and QT interval prolongation in CYP2B6 slow metabolizer: Evidence of a safer cardiac profile of (R)-methadone Eap, Chin Bin; Crettol, Séverine; Rougier, J.S.; Schlaepfer, J.; ... Abriel, Hugues 2008
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stand still, a Drosophila gene involved in the female germline for proper survival, sex determination and differentiation Pennetta, Giuseppa Léonarda; Pauli, Daniel 1997
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Significance of ethnicity in the risk of acute graft-versus-host disease and leukemia relapse after unrelated donor hematopoietic stem cell transplantation Morishima, Yasuo; Kawase, Takakazu; Malkki, Mari; Morishima, Satoko; ... Petersdorf, Effie W 2013
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Selective up-regulation of intact, but not defective env RNAs of endogenous modified polytropic retrovirus by the Sgp3 locus of lupus-prone mice Yoshinobu, Kumiko; Baudino, Lucie Clementine; Santiago-Raber, Marie-Laure; Morito, Naoki; ... Izui, Shozo 2009
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Selective epigenetic control of retrotransposition in Arabidopsis Mirouze, Marie; Reinders, Jon; Bucher, Etienne; Nishimura, Taisuke; ... Mathieu, Olivier 2009
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Replication of association between a SCN1A splice variant and febrile seizures Le Gal, François; Trachsler-Salzmann, Annick; Crespel, Arielle; Malafosse, Alain 2011
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Rare genotype combination of the serotonin transporter gene associated with treatment response in severe personality disorder Perroud, Nader Ali; Salzmann, Annick; Saiz, Pilar A.; Baca-Garcia, Enrique; ... Malafosse, Alain 2010
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Quantifiable cytotoxic T lymphocyte responses and HLA-related risk of progression to AIDS Scherer, Almut; Frater, A. John; Oxenius, Annette; Agudelo, Juliet; ... McLean, A. R. 2004
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Putative cis-regulatory drivers in colorectal cancer Ongen, Halit; Andersen, Claus L; Bramsen, Jesper B; Oster, Bodil; ... Dermitzakis, Emmanouil 2014
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Psoriasis and bacterial superantigens--formal or causal correlation? Boehncke, Wolf-Henning 1996
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prl mutations in the Escherichia coli secG gene Bost, S.; Belin, Dominique 1997
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Primary immunodeficiency mutation databases Vihinen, M.; Arredondo-Vega, F. X.; Casanova, J. L.; Etzioni, A.; ... Smith, C. I. 2001
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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Prédispositions génétiques dans l'allergie médicamenteuse : importance du HLA Bergmann, Marcel; Villard, Jean; Caubet, Jean-Christoph Roger J-P 2014
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PPARG by dietary fat interaction influences bone mass in mice and humans Ackert-Bicknell, Cheryl L.; Demissie, Serkalem; Marín de Evsikova, Caralina; Hsu, Yi-Hsiang; ... Rosen, Clifford J. 2008
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Population structure of Pseudomonas aeruginosa Wiehlmann, Lutz; Wagner, Gerd; Cramer, Nina; Siebert, Benny; ... Tummler, Burkhard 2007
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Polymorphisms in the Cd22 gene of inbred mouse strains Lajaunias, Frédéric; Ibnou-Zekri, Nabila; Fossati-Jimack, Liliane; Chicheportiche, Yves; ... Izui, Shozo 1999
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Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, Géraldine; Labuda, Malgorzata; Gagné, Vincent; ... Krajinovic, Maja 2009
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Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, G; Labuda, M; Gagné, V; ... Krajinovic, M 2012
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Pharmacogenetics-based population pharmacokinetic analysis of efavirenz in HIV-1-infected individuals Arab-Alameddine, M.; Di Iulio, J.; Buclin, Thierry; Rotger, M.; ... Csajka, C. 2009
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Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4 Mehenni, H.; Blouin, Jean-Louis; Radhakrishna, U.; Bhardwaj, S. S.; ... Antonarakis, Stylianos 1997
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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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Partial atlE sequencing of Staphylococcus epidermidis strains from prosthetic joint infections Sivadon, V.; Rottman, M.; Quincampoix, J-C; Prunier, E.; ... Gaillard, J. L. 2009
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Origin of minority drug-resistant HIV-1 variants in primary HIV-1 infection Metzner, Karin J; Scherrer, Alexandra U; Preiswerk, Benjamin; Joos, Beda; ... Günthard, Huldrych F 2013
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Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance Hollis-Moffatt, Jade E.; Chen-Xu, Michael; Topless, Ruth; Dalbeth, Nicola; ... Merriman, T. R. 2010
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Nuclear DNA polymorphism in a Mandenka population from Senegal: comparison with eight other human populations Poloni, Estella S.; Excoffier, Laurent Georges Louis; Mountain, J.L.; Langaney, André; Cavalli-Sforza, LL. 1995
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