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 TitleAuthors / EditorsDate
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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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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies van Leeuwen, F W; van Tijn, P; Sonnemans, M A F; Hobo, B; ... Fischer, D F 2006
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Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; DeLozier, Celia; Dobbie, Zuzana; Berthod, Claudine Rey; ... Hutter, Pierre 2006
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Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers Jung, Barbara; Smith, E Julieta; Doctolero, Ryan T; Gervaz, Pascal; ... Carethers, John M 2006
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Double frameshift mutations in APC and MSH2 in the same individual Soravia, Claudio; De Lozier, Celia; Dobbie, Zuzana; Berthod, Claudine; ... Hutter, Pierre 2005
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Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors Giacobino, Ariane; Rey-Berthod, Claudine; Couturier, Alexia; Antonarakis, Stylianos; Hutter, Pierre 2002
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene Young, M.; Inaba, H.; Hoyer, L. W.; Higuchi, M.; ... Antonarakis, Stylianos 1997