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- [32] Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literatureEUROPEAN JOURNAL OF PEDIATRICS, 2022, 181 (01) : 171 - 187Di Candia, Francesca论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyFontana, Paolo论文数: 0 引用数: 0 h-index: 0机构: San Pio Hosp, Med Genet Unit, Benevento, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyPaglia, Pamela论文数: 0 引用数: 0 h-index: 0机构: Scuola Med Salernitana, Pediat Unit, Dept Med Surg & Dent, Baronissi, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyFalco, Mariateresa论文数: 0 引用数: 0 h-index: 0机构: San Giovanni di Dio & Ruggi dAragona Univ Hosp, Pediat Unit, Via San Leonardo 1, I-84131 Salerno, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyRosano, Carmen论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyPiscopo, Carmelo论文数: 0 引用数: 0 h-index: 0机构: Cardarelli Hosp, Med Genet Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyCappuccio, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalySiano, Maria Anna论文数: 0 引用数: 0 h-index: 0机构: Scuola Med Salernitana, Pediat Unit, Dept Med Surg & Dent, Baronissi, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyDe Brasi, Daniele论文数: 0 引用数: 0 h-index: 0机构: AORN Santobono Pausilipon, Dept Pediat, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyMandato, Claudia论文数: 0 引用数: 0 h-index: 0机构: AORN Santobono Pausilipon, Dept Pediat, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyDe Maggio, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Cardarelli Hosp, Med Genet Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalySqueo, Gabriella Maria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Div Med Genet, Foggia, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyDella Monica, Matteo论文数: 0 引用数: 0 h-index: 0机构: Cardarelli Hosp, Med Genet Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyScarano, Gioacchino论文数: 0 引用数: 0 h-index: 0机构: San Pio Hosp, Med Genet Unit, Benevento, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyLonardo, Fortunato论文数: 0 引用数: 0 h-index: 0机构: San Pio Hosp, Med Genet Unit, Benevento, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyStrisciuglio, Pietro论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyMerla, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Div Med Genet, Foggia, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, ItalyMelis, Daniela论文数: 0 引用数: 0 h-index: 0机构: Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy Scuola Med Salernitana, Pediat Unit, Dept Med Surg & Dent, Baronissi, Italy San Giovanni di Dio & Ruggi dAragona Univ Hosp, Pediat Unit, Via San Leonardo 1, I-84131 Salerno, Italy Federico II Univ Hosp, Translat Med Dept, Pediat Unit, Naples, Italy
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W.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Ctr Adults Rare Genet Syndromes, Dept Internal Med,Div Endocrinol, Rotterdam, Netherlands Dutch Ctr Reference Prader Willi Syndrome, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Acad Ctr Growth Disorders, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsDavidse, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Ctr Adults Rare Genet Syndromes, Dept Internal Med,Div Endocrinol, Rotterdam, Netherlands Dutch Ctr Reference Prader Willi Syndrome, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Acad Ctr Growth Disorders, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsHoekstra, Franciska M. E.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands Reinier De Graaf Gasthuis, Div Nephrol, Internal Med, Delft, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsRood, Ilse M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Radboud Inst Hlth Sci, Dept Nephrol, Med Ctr, Nijmegen, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands论文数: 引用数: h-index:机构:Grugni, Graziano论文数: 0 引用数: 0 h-index: 0机构: Int Network Res Management & Educ Adults Prader W, Paris, France European Reference Network Rare Endocrine Condit, Paris, France Ist Ricovero & Cura Carattere Sci IRCCS, Ist Auxol Italiano, Div Auxol, Oggebbio, Italy Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsHoybye, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Int Network Res Management & Educ Adults Prader W, Paris, France European Reference Network Rare Endocrine Condit, Paris, France Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Stockholm, Sweden Karolinska Inst, Dept Endocrinol, Stockholm, Sweden Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsMarkovic, Tania P.论文数: 0 引用数: 0 h-index: 0机构: Int Network Res Management & Educ Adults Prader W, Paris, France Royal Prince Alfred Hosp, Metab & Obes Serv, Camperdown, NSW, Australia Univ Sydney, Charles Perkins Ctr, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsCaixas, Assumpta论文数: 0 引用数: 0 h-index: 0机构: Int Network Res Management & Educ Adults Prader W, Paris, France Parc Tauli Hosp Univ, Inst Invest & Innovacio Parc Tauli I3PT, Dept Endocrinol & Nutr, Inst Salud Carlos III CERCA ISCIII, Sabadell, Spain Univ Autonoma Barcelona, Dept Med, Sabadell, Spain Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, NetherlandsCrino, Antonino论文数: 0 引用数: 0 h-index: 0机构: Int Network Res Management & Educ Adults Prader W, Paris, France Bambino Gesu Pediat Hosp, Res Inst, Reference Ctr Prader Willi syndrome, Palidoro, Italy Fdn Policlin Univ A Gemelli, Ist Ricovero & Cura Carattere Sci IRCCS, Ctr Rare Dis & Congenital Defects, Rome, Italy Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlandsvan den Berg, Sjoerd A.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands Erasmus Med Ctr MC, Univ Med Ctr Rotterdam, Dept Clin Chem, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlandsvan der Lely, Aart J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Ctr Adults Rare Genet Syndromes, Dept Internal Med,Div Endocrinol, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Acad Ctr Growth Disorders, Rotterdam, Netherlands Erasmus MC, Univ Med Ctr Rotterdam, Dept Internal Med, Div Endocrinol, Rotterdam, Netherlandsde Graaff, Laura C. 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Main, Frankfurt, Germanyvon Spiczak, Sarah论文数: 0 引用数: 0 h-index: 0机构: Northern German Epilepsy Ctr Children & Adolescen, Kiel, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyTrollmann, Regina论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ, Dept Neuropediat, Erlangen, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyReif, Philipp S.论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, Germany Goethe Univ Frankfurt, Dept Neurol, Frankfurt, Germany Goethe Univ Frankfurt, LOEWE Ctr Personalized Translat Epilepsy Res CePT, Frankfurt, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyPritchard, Clive论文数: 0 引用数: 0 h-index: 0机构: Wickenstones Ltd, Goring Heath, England Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyPolster, Tilman论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Bethel, Bielefeld, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyNeubauer, Bernd A.论文数: 0 引用数: 0 h-index: 0机构: Justus Liebig Univ Giessen, Dept Neuropediat, Giessen, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyMayer, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kleinwachau, Dresden, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyMacdonald, Daniel论文数: 0 引用数: 0 h-index: 0机构: Wickenstones Ltd, Goring Heath, England Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyKurlemann, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Univ Munster, Dept Neuropediat, Munster, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyKluger, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Schon Klin Vogtareuth, Epilepsy Ctr Children & Adolescents, Clin Neuropediat & Neurorehabil, Vogtareuth, Germany PMU Salzburg, Res Inst Rehabil Transit & Palliat, Salzburg, Austria Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, Germany论文数: 引用数: h-index:机构:Kieslich, Matthias论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, Germany Goethe Univ Frankfurt, Dept Neurol, Frankfurt, Germany Goethe Univ Frankfurt, Dept Neuropediat, Frankfurt, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyKay, Lara论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, Germany Goethe Univ Frankfurt, Dept Neurol, Frankfurt, Germany Goethe Univ Frankfurt, LOEWE Ctr Personalized Translat Epilepsy Res CePT, Frankfurt, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyKalski, Malin论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, Germany Goethe Univ Frankfurt, Dept Neurol, Frankfurt, Germany Goethe Univ Frankfurt, LOEWE Ctr Personalized Translat Epilepsy Res CePT, Frankfurt, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyIrwin, John论文数: 0 引用数: 0 h-index: 0机构: Zogenix Int Ltd, Maidenhead, Berks, England Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyHerting, Arne论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Bethel, Bielefeld, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyCarroll, Joe论文数: 0 引用数: 0 h-index: 0机构: Wickenstones Ltd, Goring Heath, England Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyBettendorf, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Neuropediat Practice, Hirschaid, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyBast, Thomas论文数: 0 引用数: 0 h-index: 0机构: Epilepsy Ctr Kork, Kehl, Germany Univ Freiburg, Fac Med, Freiburg, Germany Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, GermanyRosenow, Felix论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Epilepsy Ctr Frankfurt Rhine Main, Frankfurt, 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