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1
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases
Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases
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Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases

Verlaan, M ; Drenth, J P H ; Truninger, K ; Koudova, M ; Schulz, H-U ; Bargetzi, M ; Künzli, B ; Friess, H ; Cerny, M ; Kage, A ; Landt, O ; te Morsche, R H M ; Rosendahl, J ; Luck, W ; Nickel, R ; Halangk, J ; Becker, M ; Macek, M ; Jansen, J B M J ; Witt, H

Journal of medical genetics, 2005-10, Vol.42 (10), p.e62-e62 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
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Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers

M Vainzof Maria Rita Passos-Bueno; R C M Pavanello; R Schreiber; M Zatz

London v.29, n.7 , p.476-9, jul. 1992 Journal of Medical Genetics

London 1992

Item não circula. Consulte sua biblioteca.(Acessar)

3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

Otto, E A ; Tory, K ; Attanasio, M ; Zhou, W ; Chaki, M ; Paruchuri, Y ; Wise, E L ; Wolf, M T F ; Utsch, B ; Becker, C ; Nürnberg, G ; Nürnberg, P ; Nayir, A ; Saunier, S ; Antignac, C ; Hildebrandt, F

Journal of medical genetics, 2009-10, Vol.46 (10), p.663-670 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers
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Artigo 		Adicionar ao Meu Espaço

Model to estimate the expression of the dystrophin gene in muscle from female becker muscular dystrophy carriers

Mariz Vainzof Maria Rita Passos-Bueno; R C M Pavanello; R Schreiber; Mayana Zatz

London v.29, n.7 , p.476-9, jul. 1992 Journal of Medical Genetics

London 1992

Item não circula. Consulte sua biblioteca.(Acessar)

5
Cosegregation of schizophrenia with becker muscular dystrophy susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain?
Cosegregation of schizophrenia with becker muscular dystrophy susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain?
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Cosegregation of schizophrenia with becker muscular dystrophy susceptibility locus for schizophrenia at xp21 or an effect of the dystrophin gene in the brain?

M Zatz H Vallada; M S Melo; Maria Rita Passos-Bueno; A. H. G Vieira Filho; M Vainzof; M Gill; V Gentil

London v.30, n.2 , p.131-4, 1993 Journal of Medical Genetics

London 1993

Item não circula. Consulte sua biblioteca.(Acessar)

6
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)
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Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker)

Koch, M C ; Ricker, K ; Otto, M ; Wolf, F ; Zoll, B ; Lorenz, C ; Steinmeyer, K ; Jentsch, T J

Journal of medical genetics, 1993-11, Vol.30 (11), p.914-917 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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7
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

Kohlhase, J ; Schubert, L ; Liebers, M ; Rauch, A ; Becker, K ; Mohammed, S N ; Newbury-Ecob, R ; Reardon, W

Journal of medical genetics, 2003-07, Vol.40 (7), p.473-478 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
Clinical consequences of deletion 1p35
Clinical consequences of deletion 1p35
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Clinical consequences of deletion 1p35

Wenger, S L ; Steele, M W ; Becker, D J

Journal of medical genetics, 1988-04, Vol.25 (4), p.263-263 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Partial gene duplication in Duchenne and Becker muscular dystrophies
Partial gene duplication in Duchenne and Becker muscular dystrophies
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Partial gene duplication in Duchenne and Becker muscular dystrophies

Hu, X Y ; Burghes, A H ; Ray, P N ; Thompson, M W ; Murphy, E G ; Worton, R G

Journal of medical genetics, 1988-06, Vol.25 (6), p.369-376 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
A novel splice site mutation in a Becker muscular dystrophy patient
A novel splice site mutation in a Becker muscular dystrophy patient
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A novel splice site mutation in a Becker muscular dystrophy patient

Bartolo, C ; Papp, A C ; Snyder, P J ; Sedra, M S ; Burghes, A H ; Hall, C D ; Mendell, J R ; Prior, T W

Journal of medical genetics, 1996-04, Vol.33 (4), p.324-327 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Vainzof, M
  4. Gill, M
  5. Vallada, H

Neste Assunto:

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

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

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