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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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Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing Ratnamala, Uppala; Lyle, Robert; Rawal, Rakesh; Singh, Raminder; ... Radhakrishna, Uppala 2011
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Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency Lebon, S; Chol, M; Benit, P; Mugnier, C; ... Munnich, A 2003
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Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos 2014
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration van der Zee, Julie 2014
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Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum Soravia, Claudio; van der Klift, Heleen; Brundler, Marie-Anne; Blouin, Jean-Louis; ... Delozier-Blanchet, Célia 2003
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Positional cloning of the APECED gene Nagamine, K.; Peterson, P.; Scott, Hamish Steele; Kudoh, J.; ... Shimizu, N. 1997
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PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy Guicheney, P; Vignier, N; Zhang, X; He, Y; ... Tryggvason, K 1998
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PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse Peeters, H; Debeer, P; Bairoch, Amos Marc; Wilquet, V; ... Devriendt, Koenraad 2003
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Overexpression of the nonpancreatic secretory group II PLA2 messenger RNA and protein in colorectal adenomas from familial adenomatous polyposis patients Kennedy, B P; Soravia, Claudio; Moffat, J; Xia, L; ... Bapat, B 1998
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Oncogenetics and minimal residual disease are independent outcome predictors in adult patients with acute lymphoblastic leukemia Beldjord, Kheira; Chevret, Sylvie; Asnafi, Vahid; Huguet, Françoise; ... Dombret, Hervé 2014
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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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NADPH oxidase elevations in pyramidal neurons drive psychosocial stress-induced neuropathology Schiavone, Stefania; Jaquet, Vincent; Sorce, Silvia; Dubois-Dauphin, Michel; ... Krause, Karl-Heinz 2012
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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Mutational analysis of the protein subunits of the signal recognition particle Alu-domain Bui, Nazarena; Wolff, N; Cusack, S; Strub, Katharina 1997
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Mutational analysis of the phage T4 morphogenetic 31 gene, whose product interacts with the Escherichia coli GroEL protein Keppel, France; Lipinska, Barbara; Ang, Deborah; Georgopoulos, Costa Panos 1990
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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mtDNA analysis of Nile River Valley populations : a genetic corridor or a barrier to migration? Krings, Matthias; Salem, Abd-el Halim; Bauer, Karin; Geisert, Helga; ... Stoneking, Mark 1999
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis Hutter, Pierre; Rey-Berthod, C; Chappuis, Pierre; Couturier, A; ... Soravia, Claudio 2001
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes Neerman Arbez, Marguerite; De Moerloose, Philippe; Honsberger, A.; Parlier, G.; ... Morris, Michael Andréw 2001
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Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency Neerman Arbez, Marguerite; Johnson, K. M.; Morris, Michael Andréw; McVey, J. H.; ... Tuddenham, E. G. 1999
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Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation Currat, Mathias; Trabuchet, Guy; Rees, David; Perrin, Pascale; ... Excoffier, Laurent Georges Louis 2002
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw 2007
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Mechanism of retinoblastoma gene inactivation in the spectrum of neuroendocrine lung tumors Gouyer, V; Gazzéri, S; Bolon, Isabelle; Drevet, C; ... Brambilla, E 1998
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Marked hemiatrophy in carriers of Duchenne muscular dystrophy Rajakulendran, Sanjeev; Kuntzer, Thierry; Dunand, Murielle; Yau, Shu C.; ... Hanna, Michael G. 2010
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Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
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Kjellin's syndrome: fundus autofluorescence, angiographic, and electrophysiologic findings Frisch, Inez B; Haag, Peter; Steffen, Heimo; Weber, Bernhard H F; Holz, Frank G 2002
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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness Scott, Hamish Steele; Kudoh, J.; Wattenhofer, M.; Shibuya, K.; ... Antonarakis, Stylianos 2001
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