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Material Type: Artigo
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Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome : report of two new patients and review of the literatureFRANCESCHINI, P ; MARTINO, S ; CIOCCHINI, M ; CIUTI, E ; VARDEU, M. P ; GUALA, A ; SIGNORILE, F ; CAMERANO, P ; FRANCESCHINI, D ; TOVO, P. AEuropean journal of pediatrics, 1995-10, Vol.154 (10), p.840-846 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneitySENEE, Valérie ; VATTEM, Krishna M ; MICHAUD, Jacques L ; BIN-ABBAS, Bassan ; TAHA, Doris ; ZABEL, Bernard ; FRANCESCHINI, Piergiorgio ; TOPALOGLU, A. Kemal ; LATHROP, G. Mark ; BARRETT, Timothy G ; NICOLINO, Marc ; WEK, Ronald C ; DELEPINE, Marc ; JULIER, Cécile ; RAINBOW, Lynn A ; HATON, Céline ; LECOQ, Annick ; SHAW, Nick J ; ROBERT, Jean-Jacques ; ROOMAN, Raoul ; DIATLOFF-ZITO, CatherineDiabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883 [Periódico revisado por pares]Alexandria, VA: American Diabetes AssociationTexto completo disponível |
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Material Type: Artigo
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Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardationFranceschini, P ; Cirillo Silengo, M ; Davi, G ; Bianco, R ; Biagioli, MHuman genetics, 1983-01, Vol.64 (1), p.98-98 [Periódico revisado por pares]GermanyTexto completo disponível |
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Material Type: Artigo
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Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome)Franceschini, P. ; Licata, D. ; Guala, A. ; Di Cara, G. ; Franceschini, D.American journal of medical genetics, 2001-02, Vol.98 (4), p.330-335New York: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and reviewFranceschini, P. ; Licata, D. ; Di Cara, G. ; Guala, A. ; Bianchi, M. ; Ingrosso, G. ; Franceschini, D.American journal of medical genetics, 1999-09, Vol.86 (2), p.174-179New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Pseudo-pseudohermaphroditism and Multiple NeurofibromatosisFranceschini, P. ; Silengo, M. ; Davi, G.F.The Journal of urology, 1978-09, Vol.120 (3), p.388-389 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Radiological features in trisomy 8Silengo, M C ; Davi, G F ; Franceschini, PPediatric radiology, 1979-04, Vol.8 (2), p.116-118 [Periódico revisado por pares]GermanyTexto completo disponível |
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Material Type: Artigo
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The Williams syndrome: an Italian collaborative studyFranceschini, P ; Guala, A ; Vardeu, M P ; Signorile, F ; Franceschini, D ; Mastroiacovo, P ; Gianotti, A ; Livini, E ; Lalatta, F ; Selicorni, A ; Andria, G ; Scarano, G ; Della Monica, M ; Rizzo, R ; Zelante, L ; Stabile, M ; Gabrielli, O ; Neri, GMinerva pediatrica, 1996-10, Vol.48 (10), p.421-428ItalyTexto completo disponível |
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Material Type: Artigo
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Patterson–Lowry rhizomelic dysplasia: Report of two new patientsFranceschini, Piergiorgio ; Licata, D. ; Guala, A. ; Ingrosso, G. ; Di Cara, G. ; Franceschini, D.American journal of medical genetics, 2004-05, Vol.127A (1), p.86-92 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Variability of the Brachmann-de Lange SyndromeSelicorni, A. ; Lalatta, F. ; Livini, E. ; Briscioli, V. ; Piguzzi, T. ; Bagozzi, D. Clerici ; Mastroiacovo, P. ; Zampino, G. ; Gaeta, G. ; Pugliese, A. ; Cerutti-Mainaroli, P. ; Guala, A. ; Zelante, L. ; Stabile, M. ; Belli, S. ; Franceschini, P. ; Gianotti, A. ; Scarano, G.American journal of medical genetics, 1993-11, Vol.47 (7), p.977-982New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |