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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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndromeNancy Mizue Kokitsu Nakata Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini Paulovich Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-CostaAmerican Journal of Medical Genetics. Part A Hoboken v. 158A, n. 8, p. 2003-2008, Aug. 2012Hoboken 2012Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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Further delineation of Kabuki Syndrome in 48 well-defined new individualsLinlea Armstrong Azza Abd El Moneim; Kirk Aleck; David J Aughton; Clarisse Baumann; Stephen R Braddock; Gabriele Gillessen-Kaesbach; John M Graham Junior; Theresa A Grebe; Karen W Gripp; Bryan D Hall; Raoul Hennekam; Alasdair Hunter; Kim Keppler-Noreuil; Didier Lacombe; Angela E Lin; Jeffrey E Ming; Nancy Mizue Kokitsu Nakata; Sarah M Nikkel; Nicole Philip; Annick Raas-Rothschild; Annemarie Sommer; Alain Verloes; Claudia Walter; Dagmar Wieczorek; Marc S Williams; Elaine Zackai; Judith E AllansonAmerican Journal of Medical Genetics. Part A Hoboken v. 132A, n. 3, p. 265-272, Jan. 2005Hoboken 2005Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndromeGordon, Christopher T. ; Cunniff, Christopher M. ; Green, Glenn E. ; Zechi-Ceide, Roseli Maria ; Johnson, Jason M. ; Henderson, Alex ; Petit, Florence ; Kokitsu-Nakata, Nancy Mizue ; Guion-Almeida, Maria Leine ; Munnich, Arnold ; Cunningham, Michael L. ; Lyonnet, Stanislas ; Amiel, JeanneAmerican journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1850-1853 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Further delineation of Kabuki syndrome in 48 well-defined new individualsArmstrong, Linlea ; Moneim, Azza Abd El ; Aleck, Kirk ; Aughton, David J. ; Baumann, Clarisse ; Braddock, Stephen R. ; Gillessen-Kaesbach, Gabriele ; Graham Jr, John M. ; Grebe, Theresa A. ; Gripp, Karen W. ; Hall, Bryan D. ; Hennekam, Raoul ; Hunter, Alasdair ; Keppler-Noreuil, Kim ; Lacombe, Didier ; Lin, Angela E. ; Ming, Jeffrey E. ; Kokitsu-Nakata, Nancy Mizue ; Nikkel, Sarah M. ; Philip, Nicole ; Raas-Rothschild, Annick ; Sommer, Annemarie ; Verloes, Alain ; Walter, Claudia ; Wieczorek, Dagmar ; Williams, Marc S. ; Zackai, Elaine ; Allanson, Judith E.American journal of medical genetics, 2005-01, Vol.132A (3), p.265-272 [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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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndromeKokitsu‐Nakata, Nancy Mizue ; Petrin, Aline Lourenço ; Heard, Jason Paul ; Vendramini‐Pittoli, Siulan ; Henkle, Laura E ; dos Santos, Daniela Vera Cruz ; Murray, Jeffrey Clark ; Richieri‐Costa, AntonioAmerican journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2003-2008 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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6 |
Material Type: Artigo
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Analysis of MLL2 genein the first Brazilian family with Kabuki syndromeKokitsu-Nakata, Nancy Mizue ; Petrin, Aline Lourenço ; Heard, Jason Paul ; Vendramini-Pittoli, Siulan ; Henkle, Laura E ; dos Santos, Daniela Vera Cruz ; Murray, Jeffrey Clark ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2012-06 (8), p.2003-2008 [Periódico revisado por pares]Texto completo disponível |
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7 |
Material Type: Artigo
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Analysis of MLL2 Gene in the First razilian Family With Kabuki SyndromeMIZUE KOKITSU-NAKATA, Nancy ; LOURENCO PETRIN, Aline ; PAUL HEARD, Jason ; VENDRAMINI-PITTOLI, Siulan ; HENKLE, Laura E ; VERA CRUZ DOS SANTOS, Daniela ; CLARK MURRAY, Jeffrey ; RICHIERI-COSTA, AntonioAmerican journal of medical genetics. Part A, 2012, Vol.158 (8), p.2003-2008 [Periódico revisado por pares]Chichester: Wiley-LissTexto completo disponível |
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8 |
Material Type: Artigo
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Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patientsGuion-Almeida, M.L. ; Rodini, E.S.O. ; Kokitsu-Nakata, N.M. ; Bologna-Amantini, D.American journal of medical genetics, 1998-03, Vol.76 (2), p.133-136 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |