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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover assunto: Medical Sciences remover
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1
An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
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An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

Jehee, Fernanda S. ; Bertola, Débora R. ; Yelavarthi, Krishna K. ; Krepischi‐Santos, Ana C.V. ; Kim, Chong ; Vianna‐Morgante, Angela M. ; Vermeesch, Joris R. ; Passos‐Bueno, Maria Rita

American journal of medical genetics. Part A, 2007-08, Vol.143A (16), p.1912-1918 [Periódico revisado por pares]

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2
Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis
Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis
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Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis

Vargas, Rosa Andrea Pardo ; Maegawa, Gustavo Henrique Boff ; Taucher, Silvia Castillo ; Leite, Júlio César L. ; Sanz, Patricia ; Cifuentes, Juan ; Parra, Mauro ; Muñoz, Hernán ; Maranduba, Carlos Magno ; Passos‐Bueno, Maria R.

American journal of medical genetics, 2003-08, Vol.121A (1), p.41-46 [Periódico revisado por pares]

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3
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
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Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?

Maranduba, Carlos Magno da Costa ; Sá Moreira, Eloísa ; Müller Orabona, Guilherme ; Cássia Pavanello, Rita ; Vianna-Morgante, Angela M. ; Rita Passos-Bueno, Maria

American journal of medical genetics, 2004-02, Vol.124A (4), p.413-415 [Periódico revisado por pares]

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4
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction
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Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction

Zorick, Todd S. ; Kleimann, Suzana ; Sertié, A. ; Zatz, Mayana ; Rosenberg, Sérgio ; Passos-Bueno, Maria Rita

American journal of medical genetics, 2004-06, Vol.127A (3), p.321-323 [Periódico revisado por pares]

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5
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies
Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies
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Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

Brito, Luciano A. ; Cruz, Lucas A. ; Rocha, Kátia M. ; Barbara, Ligia K. ; Silva, Camila B.F. ; Bueno, Daniela F. ; Aguena, Meire ; Bertola, Débora R. ; Franco, Diogo ; Costa, André M. ; Alonso, Nivaldo ; Otto, Paulo A. ; Passos-Bueno, Maria Rita

American journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1581-1587 [Periódico revisado por pares]

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6
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
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IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Brito, Luciano A. ; Bassi, Camila F.S. ; Masotti, Cibele ; Malcher, Carolina ; Rocha, Kátia M. ; Schlesinger, David ; Bueno, Daniela F. ; Cruz, Lucas A. ; Barbara, Ligia K. ; Bertola, Débora R. ; Meyer, Diogo ; Franco, Diogo ; Alonso, Nivaldo ; Passos-Bueno, Maria Rita

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2170-2175 [Periódico revisado por pares]

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7
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?
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Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done?

Jehee, Fernanda Sarquis ; Burin, Beatriz A. ; Rocha, Kátia M. ; Zechi-Ceide, Roseli ; Bueno, Daniela F. ; Brito, Luciano ; Souza, Josiane ; Leal, Gabriela Ferraz ; Richieri-Costa, Antonio ; Alonso, Nivaldo ; Otto, Paulo A. ; Passos-Bueno, Maria Rita

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1319-1322 [Periódico revisado por pares]

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