Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Congenital heart defects in Kabuki syndromeDigilio, Maria Cristina ; Marino, Bruno ; Toscano, Alessandra ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 2001-05, Vol.100 (4), p.269-274 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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2 |
Material Type: Artigo
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Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome)Digilio, Maria Cristina ; Marino, Bruno ; Giannotti, Aldo ; Castro, Massimo ; Colistro, Franco ; Ferretti, Francesca ; Dallapiccola, BrunoAmerican journal of medical genetics, 2003-09, Vol.121A (3), p.286-288 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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Deletion of the SHOX gene in patients with short stature of unknown causeMorizio, E. ; Stuppia, L. ; Gatta, V. ; Fantasia, D. ; Guanciali Franchi, P. ; Rinaldi, MM ; Scarano, G. ; Concolino, D. ; Giannotti, A. ; Verrotti, A. ; Chiarelli, F. ; Calabrese, G. ; Palka, G.American journal of medical genetics, 2003-06, Vol.119A (3), p.293-296 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20pDigilio, Maria Cristina ; Torrente, Isabella ; Goodship, Judith A. ; Marino, Bruno ; Novelli, Giuseppe ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 2004-04, Vol.126A (3), p.319-323 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Deletion 8p syndromeDigilio, Maria Cristina ; Marino, Bruno ; Guccione, Paolo ; Giannotti, Aldo ; Mingarelli, Rita ; Dallapiccola, BrunoAmerican journal of medical genetics, 1998-02, Vol.75 (5), p.534-536 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxiaDigilio, Maria Cristina ; Marino, Bruno ; Ammirati, Antonio ; Borzaga, Umberto ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 1999-06, Vol.84 (4), p.350-356 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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7 |
Material Type: Artigo
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Genetic heterogeneity of isolated noncompaction of the left ventricular myocardiumDigilio, Maria Cristina ; Marino, Bruno ; Bevilacqua, Maurizio ; Musolino, Anna Maria ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 1999-07, Vol.85 (1), p.90-91 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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8 |
Material Type: Artigo
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Atrioventricular canal defect without Down syndrome: A heterogeneous malformationDigilio, Maria Cristina ; Marino, Bruno ; Toscano, Alessandra ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 1999-07, Vol.85 (2), p.140-146 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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9 |
Material Type: Artigo
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Noonan syndrome and aortic coarctationDigilio, Maria Cristina ; Marino, Bruno ; Picchio, Fernando ; Prandstraller, Daniela ; Toscano, Alessandra ; Giannotti, Aldo ; Dallapiccola, BrunoAmerican journal of medical genetics, 1998-11, Vol.80 (2), p.160-162 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Heterotaxy with left atrial isomerism in a patient with deletion 18pDigilio, Maria Cristina ; Marino, Bruno ; Giannotti, Aldo ; Di Donato, Roberto ; Dallapiccola, BrunoAmerican journal of medical genetics, 2000-09, Vol.94 (3), p.198-200 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |