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Refinado por: Nome da Publicação: American Journal of Medical Genetics. Part A remover
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11
Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype
Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype
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Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype

Giselda Santiago Dagma Venturini Marques Abramides; Luciana Paula Maximino De Vitto; Lucilene Arilho Ribeiro; Sílvio Garcia Meira Júnior; Antonio Richieri-Costa

American Journal of Medical Genetics. Part A Hoboken v. 104A, n. 19, p. 2085-2090, Oct. 2006

Hoboken 2006

Acesso online

12
Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype
Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

Language skills and neuropsychological performance in patients with SHH mutations and holoprosencephaly-like phenotype

Giselda Santiago Dagma Venturini Marques Abramides; Luciana Paula Maximino De Vitto; Lucilene Arilho Ribeiro; Sílvio Garcia Meira Júnior; Antonio Richieri-Costa

American Journal of Medical Genetics. Part A Hoboken v. 104A, n. 19, p. 2085-2090, Oct. 2006

Hoboken 2006

Acesso online

13
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Material Type:
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Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

Roseli Maria Zechi-Ceide Lucilene Arilho Ribeiro; Salmo Raskin; Claudia Danielli Pereira Bertolacini; Maria Leine Guion-Almeida; Antonio Richieri-Costa

American Journal of Medical Genetics. Part A Hoboken v. 149A, n. 6, p. 1277-1279, June 2009

Hoboken 2009

Item não circula. Consulte sua biblioteca.(Acessar)

14
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

Roseli Maria Zechi-Ceide Lucilene Arilho Ribeiro; Salmo Raskin; Claudia Danielli Pereira Bertolacini; Maria Leine Guion-Almeida; Antonio Richieri-Costa

American Journal of Medical Genetics. Part A Hoboken v. 149A, n. 6, p. 1277-1279, June 2009

Hoboken 2009

Item não circula. Consulte sua biblioteca.(Acessar)

15
Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?
Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?
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Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?

Taiane Vieira Ida Schwartz; Verónica Muñoz; Louise Pinto; Carlos Steiner; Márcia Ribeiro; Raquel Boy; Victor Evangelista de Faria Ferraz; Ana de Paula; Chong Kim; Angelina Acosta; Roberto Giugliani

American Journal of Medical Genetics. Part A Hoboken v. 146A, n. 13, p. 1741-1747, 2008

Hoboken 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1681153 )(Acessar)

16
Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?
Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mucopolysaccharidoses in Brazil what happens from birth to biochemical diagnosis ?

Taiane Vieira Ida Schwartz; Verónica Muñoz; Louise Pinto; Carlos Steiner; Márcia Ribeiro; Raquel Boy; Victor Evangelista de Faria Ferraz; Ana de Paula; Chong Kim; Angelina Acosta; Roberto Giugliani

American Journal of Medical Genetics. Part A Hoboken v. 146A, n. 13, p. 1741-1747, 2008

Hoboken 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1681153 )(Acessar)

17
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
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Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

Fernanda S Jehee Valdirene T. de Oliveira; Juliana Gurgel Giannetti; Rafaella X Pietra; Fernando V. M Rubatino; Natália V Carobin; Gabrielle S Vianna; Mariana L. de Freitas; Karla S Fernandes; Beatriz S. V Ribeiro; Hennie T Brüggenwirth; Roza Ali-Amin; Janson J White; Zeynep C Akdemir; Shalini N Jhangiani; Richard A Gibbs; James R Lupski; Monica C Varela; Celia Priszkulnik Koiffmann; Carla Rosenberg; Cláudia M. B Carvalho; Baylor-Hopkins Center for Mendelian Genomics

American Journal of Medical Genetics. Part A Hoboken online, p. 1-5, June 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

18
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation
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Single median maxillary central incisor, hypophyseal tumor, and SHH mutation

Ribeiro, Lucilene Arilho ; Richieri-Costa, Antonio

American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.346-347 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
19
Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: New case and imaging review of previous cases
Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: New case and imaging review of previous cases
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Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: New case and imaging review of previous cases

Richieri-Costa, Antonio ; Ribeiro, Lucilene Arilho

American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.352-353 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
20
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation
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Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation

Ribeiro, Lucilene Arilho ; Richieri-Costa, Antonio

American journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.348-349 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
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Deste Autor:

  1. Richieri-Costa, A
  2. Ribeiro, L
  3. Bertolacini, C
  4. Giugliani, R
  5. Zechi-Ceide, R

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Holoprosencefalia

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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