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Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes Eliez, Stéphan; Palacio-Espasa, Francisco; Spira, A.; Lacroix, M.; ... Cramer, B. 2000
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YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome Nadal, M.; Mila, M.; Pritchard, M.; Mur, A.; ... Estivill, X. 1996
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Xenopus Meis3 protein lies at a nexus downstream to Zic1 and Pax3 proteins, regulating multiple cell-fates during early nervous system development Gutkovich, Yoni E.; Ofir, Rachel; Elkouby, Yaniv M.; Dibner, Charna; ... Frank, Dale 2010
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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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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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VTA DA neuron excitatory synapses in Shank3 Δex4-9 mouse line Bariselli, Sebastiano; Bellone, Camilla 2017
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Urokinase-type plasminogen activator and its receptor synergize to promote pathogenic proteolysis Zhou, Hong-Ming; Nichols, Anthony; Meda, Paolo; Vassalli, Jean-Dominique 2000
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Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference Young, Alexandra L; Marinescu, Razvan V; Oxtoby, Neil P; Bocchetta, Martina; ... Alexander, Daniel C 2018
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Two regulatory levels of transcriptional gene silencing in Arabidopsis Mittelsten Scheid, Ortrun; Probst, Aline V.; Afsar, Karin; Paszkowski, Jerzy 2002
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Two colons-two cancers: paradigm shift and clinical implications Gervaz, Pascal; Bucher, Pascal Alain Robert; Morel, Philippe 2004
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Tumour necrosis factor alpha confers an invasive, transformed phenotype on mammary epithelial cells Montesano, Roberto; Soulie, Priscilla; Eble, Johannes A.; Carrozzino, Fabio 2005
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Treatment of congenital fibrinogen disorders De Moerloose, Philippe; Neerman Arbez, Marguerite 2008
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Transgenerational stability of the Arabidopsis epigenome is coordinated by CG methylation Mathieu, Olivier; Reinders, Jon; Caikovski, Marian; Smathajitt, Chotika; Paszkowski, Jerzy 2007
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Tracing HIV-1 transmission: envelope traits of HIV-1 transmitter and recipient pairs Oberle, Corinna S; Joos, Beda; Rusert, Peter; Campbell, Nottania K; ... Günthard, Huldrych F 2016
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid 2013
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Tibial aplasia-hypoplasia and ectrodactyly in monozygotic twins with a discordant phenotype Dayer, Romain Olivier Pierre; Ceroni, Dimitri; Bottani, Armand; Kaelin, André 2007
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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 phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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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 chaperone Hsp90alpha is required for meiotic progression of spermatocytes beyond pachytene in the mouse Grad, Iwona; Cederroth, Christopher; Walicki, Joël Jonathan; Grey, Corinne; ... Picard, Didier 2010
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