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1
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

2
TBX22 mutations are a frequent cause of cleft palate
TBX22 mutations are a frequent cause of cleft palate
Material Type:
Artigo 		Adicionar ao Meu Espaço

TBX22 mutations are a frequent cause of cleft palate

Ana Carolina Braga Marçano K Doudney; C Braybrook; R Squires; M. A Patton; M. M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; G.E Moore; P Stanier

Journal of Medical Genetics v. 41, n. 1, p. 68-74, Jan. 2004

London 2004

Item não circula. Consulte sua biblioteca.(Acessar)

3
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

4
TBX22 mutations are a frequent cause of cleft palate
TBX22 mutations are a frequent cause of cleft palate
Material Type:
Artigo 		Adicionar ao Meu Espaço

TBX22 mutations are a frequent cause of cleft palate

Ana Carolina Braga Marçano K Doudney; C Braybrook; R Squires; M. A Patton; M. M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; G.E Moore; P Stanier

Journal of Medical Genetics v. 41, n. 1, p. 68-74, Jan. 2004

London 2004

Item não circula. Consulte sua biblioteca.(Acessar)

5
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

6
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

7
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Material Type:
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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

A. M. Sharp L. M Messiaen; G Page; M-C Gubler; C Antignac; Luiz Fernando Onuchic; S Somlo; G. G Germino; L. M Guay-Woodford

Journal of Medical Genetics v. 42, p. 336-349, 2005

London 2005

Localização: FM - Fac. Medicina    (FM BCSEP 167 2005 )(Acessar)

8
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
Material Type:
Artigo 		Adicionar ao Meu Espaço

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

A. M. Sharp L. M Messiaen; G Page; M-C Gubler; C Antignac; Luiz Fernando Onuchic; S Somlo; G. G Germino; L. M Guay-Woodford

Journal of Medical Genetics v. 42, p. 336-349, 2005

London 2005

Localização: FM - Fac. Medicina    (FM BCSEP 167 2005 )(Acessar)

9
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Material Type:
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

Kelly A. Bear Benjamin D Solomon; Sonir Antonini; Ivo J. P Arnhold; Marcela M França; Erica H Gerkes; Dorothy K Grange; Donald W Hadley; Jarmo Jääskeläinen; Sabrina S Paulo; Patrick Rump; Constantine A Stratakis; Elizabeth M Thompson; Mary Willis; Thomas L Winder; Alexander A. L Jorge; Erich Roessler; Maximilian Muenke

Journal of Medical Genetics London v. 51, n. 6, p. 413-418, 2014

London 2014

Acesso online. A biblioteca também possui exemplares impressos.

10
Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders
Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders
Material Type:
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Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders

Eduardo Calpena Maud Wurmser; Simon J McGowan; Rodrigo Atique; Débora R Bertola; Michael L Cunningham; Jonas A Gustafson; David Johnson; Jenny E. V Morton; Maria Rita Passos-Bueno; Andre T Timberlake; Richa P Lifton; Steven A Wall; Stephen R. F Twigg; Pascal Maire; Andrew O. M Wilkie

Journal of Medical Genetics London on-line

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Patton, M
  4. Kok, F
  5. Jabs, E

Neste Assunto:

  1. Mutação Genética
  2. Genética Médica
  3. Distrofia Muscular
  4. Malformações
  5. Nefropatias (Genética)

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

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