换一批Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
第一作者：
Micale,L.
作者：
Micale,L. [1]
;
Augello,B. [2]
;
Maffeo,C. [3]
;
Selicorni,A. [4]
;
Zucchetti,F. [5]
;
Fusco,C. [6]
;
DeNittis,P. [7]
;
Pellico,M.T. [8]
;
Mandriani,B. [9]
;
Fischetto,R. [10]
;
Boccone,L. [11]
;
Silengo,M. [12]
;
Biamino,E. [13]
;
Perria,C. [14]
;
Sotgiu,S. [15]
;
Serra,G. [16]
;
Lapi,E. [17]
;
Neri,M. [18]
;
Ferlini,A. [19]
;
Cavaliere,M.L. [20]
;
Chiurazzi,P. [21]
;
Monica,M.D. [22]
;
Scarano,G. [23]
;
Faravelli,F. [24]
;
Ferrari,P. [25]
;
Mazzanti,L. [26]
;
Pilotta,A. ;
Patricelli,M.G. ;
Bedeschi,M.F. ;
Benedicenti,F. ;
Prontera,P. ;
Toschi,B. ;
Salviati,L. ;
Melis,D. ;
DiBattista,E. ;
Vancini,A. ;
Garavelli,L. ;
Zelante,L. ;
Merla,G.
作者单位：
Dipartimento Materno Infantile, Università degli Studi Modena, Modena, Italy
[1]
Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, IRP Città della
[2]
Clinical Genetics Unit, S.Maria Nuova Hospital, Reggio Emilia, Italy
[3]
Section of Childhood and Adolescence Neuropsychiatry, Department Experimental and Clinical Medicine
[4]
Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy
[5]
Rare Disease Unit, Paediatric Department, University of Bologna, Bologna, Italy
[6]
Dipartimento di Pediatria, Area Funzionale di Genetica Clinica Pediatrica, Università degli Studi
[7]
UOC Genetica Medica, Azienda Ospedaliera RN G.Rummo, Benevento, Italy
[8]
U.O. Laboratorio di Genetica Medica, AOU Pisana, Pisa, Italy
[9]
Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione
[10]
Department of Pediatrics, University of Turin, Turin, 10126, Italy
[11]
Newborn Intensive Care Unit, Maggiore Hospital, Bologna, Italy
[12]
Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore, Policlinico, Milan, Italy
[13]
U.O. Malattie Metaboliche Genetica Medica Endocrinologia, P.O. Giovanni XXIII, A.O.U. Policlinico
[14]
Medical Genetics Unit, Children's Hospital Anna Meyer, Firenze, Italy
[15]
Medical Genetics Unit, University and Hospital of Perugia, Perugia, Italy
[16]
Biologia Molecolare e Citogenetica, Diagnostica e Ricerca San Raffaele, Milano, Italy
[17]
Department of Pediatrics, Genetic Counselling Service, Regional Hospital of Bolzano, Bolzano, Italy
[18]
Department of Medical Science, Section of Medical Genetics, University of Ferrara, Ferrara, Italy
[19]
Institute of Medical Genetics, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, Rome
[20]
U.O. Genetica Clinica e Malattie Rare Ospedale Microcitemico Cagliari, Italy
[21]
Institute of Child Neuropsychiatry, University of Sassari, Sassari, Italy
[22]
A.O.R.N.A. Cardarelli, U.O.S.C. Genetica Medica, Napoli, Italy
[23]
Clinica Pediatrica, IRCCS G.Gaslini, Università di Genova, Genova, Italy
[24]
Centro di Auxoendocrinologia, Department of Pediatrics, University of Brescia, Spedali Civili
[25]
Division of Medical Genetics, Galliera Hospital, Genova, Italy
[26]
发布时间
2015-02-03
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Human mutation
Human mutation
841-850页
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