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 Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition Socha, Piotr; Janczyk, Wojciech; Dhawan, Anil; Baumann, Ulrich; ... Debray, Dominique 2018
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 Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos 2009
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 Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta 2011
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 Transient translational silencing by reversible mRNA deadenylation Huarte, Joachim; Stutz, A.; O'Connell, M. L.; Gubler, P.; ... Vassalli, Jean-Dominique 1992
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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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 TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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 The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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 The rat hepatic leukemia factor (HLF) gene encodes two transcriptional activators with distinct circadian rhythms, tissue distributions and target preferences Falvey, Eileen Elisabeth; Fleury Olela, Fabienne; Schibler, Ulrich 1995
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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 gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region Radhakrishna, U.; Blouin, Jean-Louis; Mehenni, H.; Mehta, T. Y.; ... Antonarakis, Stylianos 1997
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 The CST3 B haplotype is associated with frontotemporal lobar degeneration Benussi, L; Ghidoni, R; Galimberti, D; Boccardi, Marina; ... Binetti, G 2010
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 Telomere length is not predictive of dementia or MCI conversion in the oldest old Zekry Berger, Dina Selma; Herrmann, François; Irminger-Finger, Irmgard; Ortolan, Laura; ... Krause, Karl-Heinz 2010
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 Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) Roessler, E.; Mittaz, L.; Du, Y.; Scott, Hamish Steele; ... Antonarakis, Stylianos 1999
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 Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP Selenko, Philipp; Gregorovic, Goran; Sprangers, Remco; Stier, Gunter; ... Sattler, Michael 2003
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 Spontaneous rupture of a gastrointestinal stromal tumour associated with life-threatening nontraumatic hemoperitoneum Bucher, Pascal; Poletti, Pierre Alexandre; Myit, Samir; Morel, Philippe 2008
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 Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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 Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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 Scanning mutagenesis identifies amino acid residues essential for the in vivo activity of the Escherichia coli DnaJ (Hsp40) J-domain Genevaux, Pierre; Schwager, Françoise; Georgopoulos, Costa Panos; Kelley, William 2002
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 Rous Sarcoma Virus Expression in Saccharomyces cerevisiae: Processing and Membrane Targeting of the gag Gene Product Bonnet, Daniel André Paul; Spahr, Pierre-François 1990
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 Rhinovirus genome evolution during experimental human infection Cordey, Samuel; Junier, Thomas; Gerlach, Daniel; Gobbini, Francesca; ... Kaiser, Laurent 2010
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