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The IGSF1 Deficiency Syndrome: Characteristics of Male and Female PatientsJoustra, S. D ; Schoenmakers, N ; Persani, L ; Campi, I ; Bonomi, M ; Radetti, G ; Beck-Peccoz, P ; Zhu, H ; Davis, T. M. E ; Sun, Y ; Corssmit, E. P ; Appelman-Dijkstra, N. M ; Heinen, C. A ; Pereira, A. M ; Varewijck, A. J ; Janssen, J. A. M. J. L ; Endert, E ; Hennekam, R. C ; Lombardi, M. P ; Mannens, M. M. A. M ; Bak, B ; Bernard, D. J ; Breuning, M. H ; Chatterjee, K ; Dattani, M. T ; Oostdijk, W ; Biermasz, N. R ; Wit, J. M ; van Trotsenburg, A. S. PThe journal of clinical endocrinology and metabolism, 2013-12, Vol.98 (12), p.4942-4952 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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Impact of increased visceral and cardiac fat on cardiometabolic risk and diseaseSironi, A. M. ; Petz, R. ; De Marchi, D. ; Buzzigoli, E. ; Ciociaro, D. ; Positano, V. ; Lombardi, M. ; Ferrannini, E. ; Gastaldelli, A.Diabetic medicine, 2012-05, Vol.29 (5), p.622-627 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Identification and Allele-Specific Silencing of the Mutant Huntingtin Allele in Huntington's Disease Patient-Derived FibroblastsVAN BILSEN, P. H. J ; JASPERS, L ; LOMBARDI, M. S ; ODEKERKEN, J. C. E ; BURRIGHT, E. N ; KAEMMERER, W. FHuman gene therapy, 2008-07, Vol.19 (7), p.710-718 [Periódico revisado por pares]Larchmont, NY: LiebertTexto completo disponível |
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Fetal echocardiography at 11–13 weeks by transabdominal high‐frequency ultrasoundPersico, N. ; Moratalla, J. ; Lombardi, C. M. ; Zidere, V. ; Allan, L. ; Nicolaides, K. H.Ultrasound in obstetrics & gynecology, 2011-03, Vol.37 (3), p.296-301 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Phenotype and genotype in 17 patients with Goltz–Gorlin syndromeMaas, S M ; Lombardi, M P ; van Essen, A J ; Wakeling, E L ; Castle, B ; Temple, I K ; Kumar, V K A ; Writzl, K ; Hennekam, Raoul C MJournal of medical genetics, 2009-10, Vol.46 (10), p.716-720 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Effects of medical therapies for acromegaly on glucose metabolismUrbani, C ; Sardella, C ; Calevro, A ; Rossi, G ; Scattina, I ; Lombardi, M ; Lupi, I ; Manetti, L ; Martino, E ; Bogazzi, FEuropean journal of endocrinology, 2013-07, Vol.169 (1), p.99-108 [Periódico revisado por pares]Bristol: BioScientificaTexto completo disponível |
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Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failureWesterveld, G.H ; Korver, C.M ; van Pelt, A.M.M ; Leschot, N.J ; van der Veen, F ; Repping, S ; Lombardi, M.PHuman reproduction (Oxford), 2006-12, Vol.21 (12), p.3178-3184 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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A comprehensive gene mutation screen in men with asthenozoospermiaVisser, Liesbeth, M.D., M.Sc ; Westerveld, G. Henrike, M.D., Ph.D ; Xie, Fang, Ph.D ; van Daalen, Saskia K.M., B.Sc ; van der Veen, Fulco, M.D., Ph.D ; Lombardi, M. Paola, Ph.D ; Repping, Sjoerd, Ph.DFertility and sterility, 2011-03, Vol.95 (3), p.1020-1024.e9 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Mortality Risk of Untreated Myosin-Binding Protein C-Related Hypertrophic Cardiomyopathy: Insight Into the Natural HistoryNANNENBERG, Eline A ; MICHELS, Michelle ; VAN LANGEN, Irene M ; WILDE, Arthur A. M ; SIJBRANDS, Eric J. G ; CHRISTIAANS, Imke ; MAJOOR-KRAKAUER, Danielle ; HOEDEMAEKERS, Yvonne M ; PETER VAN TINTELEN, J ; PAOLA LOMBARDI, M ; TEN CATE, Folkert J ; SCHINKEL, Arend F. L ; TIJSSEN, Jan G. PJournal of the American College of Cardiology, 2011-11, Vol.58 (23), p.2406-2414 [Periódico revisado por pares]New York, NY: ElsevierTexto completo disponível |
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Fetal echocardiography at the time of the nuchal translucency scanLombardi, C. M. ; Bellotti, M. ; Fesslova, V. ; Cappellini, A.Ultrasound in obstetrics & gynecology, 2007-03, Vol.29 (3), p.249-257 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |