Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Micale, L"'
Autor:
Cocciadiferro D; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, Italy., Augello B; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., De Nittis P; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Zhang J; Department of Pathology and Cell Biology, Institute for Cancer Genetics, Columbia University, New York, NY, USA., Mandriani B; Telethon Institute of Genetics and Medicine, TIGEM, Pozzuoli, Naples, Italy., Malerba N; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.; PhD Program in Experimental and Regenerative Medicine, Faculty of Medicine, University of Foggia, Italy., Squeo GM; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Romano A; Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Piccinni B; Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy., Verri T; Department of Biological and Environmental Sciences and Technologies, University of Salento, Lecce, Italy., Micale L; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Pasqualucci L; Department of Pathology and Cell Biology, Institute for Cancer Genetics, Columbia University, New York, NY, USA., Merla G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2018 Nov 01; Vol. 27 (21), pp. 3651-3668.
Autor:
Micale L; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy., Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G
Publikováno v:
Human mutation [Hum Mutat] 2014 Jul; Vol. 35 (7), pp. 841-50. Date of Electronic Publication: 2014 Apr 09.
Autor:
Makrythanasis P; Departement of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A
Publikováno v:
Clinical genetics [Clin Genet] 2013 Dec; Vol. 84 (6), pp. 539-45. Date of Electronic Publication: 2013 Apr 26.
Autor:
Priolo M; Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy., Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 627-9. Date of Electronic Publication: 2012 Jul 06.
Autor:
Micale L; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy., Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2011 Jun 09; Vol. 6, pp. 38. Date of Electronic Publication: 2011 Jun 09.
Autor:
Tiziano Verri, Barbara Piccinni, Laura Pasqualucci, Pasquelena De Nittis, Natascia Malerba, Jiyuan Zhang, Bartolomeo Augello, Lucia Micale, Giuseppe Merla, Gabriella Maria Squeo, Barbara Mandriani, Dario Cocciadiferro, Alessandro Romano
Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransfer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d34585344f6db1d1384c5fb0e8c59099
http://hmg.oxfordjournals.org/
http://hmg.oxfordjournals.org/