Publications
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Tizzano E and Buchwald M.
Recent advances in cystic fibrosis research.
JOURNAL OF PEDIATRICS . 122(6): 985-988. Number of citations: 10
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Tizzano E, Chitayat D and Buchwald M.
Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.
HUMAN MOLECULAR GENETICS . 2(3): 219-224. Number of citations: 129
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Tizzano E, Gallano Petit P and Baiget Bastus M.
Importancia del diagnóstico molecular en la detección de varones sanos transmisores de síndrome del X-frágil.
Anales espanoles de pediatria . 36(4): 272-276.
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Tizzano E and Buchwald M.
Cystic fibrosis: beyond the gene to therapy.
JOURNAL OF PEDIATRICS . 120(3): 337-349. Number of citations: 47
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Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T and Gallano P.
DMD carrier detection in a female with mosaic Turner's syndrome.
JOURNAL OF MEDICAL GENETICS . 28(3): 209-210. Number of citations: 9
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Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martínez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S and Mao X.
Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
JOURNAL OF CLINICAL INVESTIGATION . : .