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Refinado por: Nome da Publicação: Journal of Medical Genetics remover
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1
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly
Material Type:
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10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

Danyllo Oliveira Gabriela Ferraz Leal; Andréa L Sertié; Luiz Carlos Caires Jr; Ernesto Goulart; Camila Manso Musso; João Ricardo Mendes de Oliveira; Ana Cristina Victorino Krepischi; Angela M Vianna-Morgante; Mayana Zatz

Journal of Medical Genetics London online, p. 1-5, Oct. 2018

London 2018

Item não circula. Consulte sua biblioteca.(Acessar)

2
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
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A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics Londres v. 35, p. 951-953, 1998

Londres 1998

Item não circula. Consulte sua biblioteca.(Acessar)

3
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Eloisa S. Moreira Mariz Vainzof; Suely Kazue Nagahashi Marie; Vicenzo Nigro; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics Londres v. 35, p. 951-953, 1998

Londres 1998

Item não circula. Consulte sua biblioteca.(Acessar)

4
Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents
Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents
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Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents

Carla Rosenberg Jeroen Knijnenburg; E Bakker; Angela M Vianna-Morgante; W Sloos; Paulo A Otto; M Kriek; K Hansson; Ana Cristina Victorino Krepischi; H Fiegler; N. P Carter; E. K Bijlsma; A Van Haeringen; K Szuhai; H. J Tanke

Journal of Medical Genetics v. 43, p. 180-186, 2006

London 2006

Item não circula. Consulte sua biblioteca.(Acessar)

5
Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents
Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents
Material Type:
Artigo 		Adicionar ao Meu Espaço

Array-CGH detection of micro rearrangements in mentally retarded individuals clinical significance of imbalances present both in affected children and normal parents

C Rosenberg Jeroen Knijnenburg; E Bakker; Angela Maria Vianna-Morgante; W Sloos; Paulo Alberto Otto; M Kriek; K Hansson; Ana Cristina Victorino Krepischi-Santos; H Fiegler; N. P Carter; E. K Bijlsma; A Van Haeringen; K Szuhai; H. J Tanke

Journal of Medical Genetics v. 43, p. 180-186, 2006

London 2006

Item não circula. Consulte sua biblioteca.(Acessar)

6
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
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Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss

Journal of Medical Genetics v. 42, p. 108-120, 2005

London 2005

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

7
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Automated genomic sequence analysis of the three collagen VI genes applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

A. K. Lampe D. M Dunn; A. C. van Niederhausern; C Hamil; A Aoyagi; S. H Laval; S. K Marie; M.-L Chu; K Swoboda; F Muntoni; C. G Bonnemann; K. M Flanigan; K. M. D Bushby; R. B Weiss

Journal of Medical Genetics v. 42, p. 108-120, 2005

London 2005

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

8
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome

Ricardo Di Lazzaro Filho Guilherme Lopes Yamamoto; Tiago J Silva; Leticia A Rocha; Bianca D. W Linnenkamp; Matheus Augusto Araújo Castro; Deborah Bartholdi; André Schaller; Tosso Leeb; Samantha Kelmann; Claudia Y Utagawa; Carlos E Steiner; Leandra Steinmetz; Rachel Sayuri Honjo; Chong Ae Kim; Lisa Wang; Raphaël Abourjaili-Bilodeau; Philippe M Campeau; Matthew Warma; Maria Rita Passos-Bueno; Nicolas Carlos Hoch; Débora Romeo Bertola

Journal of Medical Genetics London on-line, 2023

London 2023

Item não circula. Consulte sua biblioteca.(Acessar)

9
Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia
Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia
Material Type:
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Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia

F F Costa M A Zago

v.23, p.25-55, 1986 Journal of Medical Genetics

1986

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 759213 Estantes Deslizantes )(Acessar)

10
Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia
Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia
Material Type:
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Bone marrow and peripheral blood globin chain synthesis in sickle cell beta thalassaemia

F F Costa M A Zago

v.23, p.25-55, 1986 Journal of Medical Genetics

1986

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 759213 Estantes Deslizantes )(Acessar)

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Vianna-Morgante, A
  4. Vainzof, M
  5. Rosenberg, C

Neste Assunto:

  1. Genética Médica
  2. Doenças Genéticas
  3. Mutação Genética
  4. Distrofia Muscular
  5. Genética

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

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