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1
214th ENMC International Workshop Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015
214th ENMC International Workshop Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015
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214th ENMC International Workshop Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015

Sandra Donkervoort James J Dowling; Jocelyn Laporte; Daniel Macarthur; Carsten G Bonnemann; Alan Beggs; Gisele Bonne; Carsten Bonnemann; Sandra Donkervoort; Edmar Zanoteli

Neuromuscular disorders v. 29, n. 8, p. 644-650, 2019

Oxford 2019

Acesso online. A biblioteca também possui exemplares impressos.

2
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy Case Series and Review of the Literature
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy Case Series and Review of the Literature
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Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy Case Series and Review of the Literature

Cristiane de Araújo Martins Moreno Osório Abath Neto; Sandra Donkervoort; Umbertina Conti Reed; Acary Sousa Bulle Oliveira; Carsten Bönnemann; Edmar Zanoteli

Pediatric Neurology Chippewa Falls (US) v. 75, p. 11-16, 2017

Chippewa Falls US 2017

Localização: FM - Fac. Medicina    (BCSEP 467 2017 )(Acessar)

3
Congenital fiber type disproportion caused by TPM3 mutation a report of two atypical cases
Congenital fiber type disproportion caused by TPM3 mutation a report of two atypical cases
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Congenital fiber type disproportion caused by TPM3 mutation a report of two atypical cases

Cristiane Araujo Martins Moreno Eduardo de Paula Estephan; Alan Fappi; Soledad Monges; Fabiana Lubieniecki; Osorio Lopes Abath Neto; Umbertina Conti Reed; Sandra Donkervoort; Matthew B Harms; Carsten Bonnemann; Edmar Zanoteli

Neuromuscular disorders v. 30, n. 1, p. 54-58, 2020

Oxford 2020

Acesso online. A biblioteca também possui exemplares impressos.

4
Consensus statement on standard of care for congenital myopathies
Consensus statement on standard of care for congenital myopathies
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Consensus statement on standard of care for congenital myopathies

Ching H Wang James J Dowling; Kathryn North; Mary K Schroth; Thomas Sejersen; Frederic Shapiro; Jonathan Bellini; Hali Weiss; Marc Guillet; Kimberly Amburgey; Susan Apkon; Enrico Bertini; Carsten Bonnemann; Nigel Clarke; Anne M Connolly; Brigitte Estournet-Mathiaud; Dominic Fitzgerald; Julaine M Florence; Richard Gee; Juliana Gurgel Giannetti; Allan M Glanzman; Brittany Hofmeister; Heinz Jungbluth; Anastassios C Koumbourlis; Nigel G Laing; Marion Main; Leslie A Morrison; Craig Munns; Kristy Rose; Pamela M Schuler; Caroline Sewry; Kari Storhaug; Mariz Vainzof; Nanci Yuan

Journal of Child Neurology Thousand Oaks, CA v. 37, n. 3, p. 363-382, 2012

Thousand Oaks, CA 2012

Item não circula. Consulte sua biblioteca.(Acessar)

5
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
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New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

Te-Cheng Pan Rui Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bonnemann; Mon Li Chu

American Journal of Human Genetics Chicago v. 73, p. 355-369, 2003

Chicago 2003

Localização: FM - Fac. Medicina    (FM BCSEP 2003 253 )(Acessar)

6
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

New molecular mechanism for ullrich congenital muscular dystrophy a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

Te-Cheng Pan Rui Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bonnemann; Mon Li Chu

American Journal of Human Genetics Chicago v. 73, p. 355-369, 2003

Chicago 2003

Localização: FM - Fac. Medicina    (FM BCSEP 2003 253 )(Acessar)

7
Caveolin-3 in muscular dystrophy
Caveolin-3 in muscular dystrophy
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Caveolin-3 in muscular dystrophy

Elizabeth M McNally Eloísa de Sá Moreira; David J Duggan; Carsten G Bönnemann; Michael P Lisanti; Hart G W Lidov; Mariz Vainzof; Maria Rita Passos-Bueno; Eric P Hoffman; Mayana Zatz; Louis M Kunkel

Human Molecular Genetics v. 7, n. 5, p. 871-877, 1998

Oxford 1998

Item não circula. Consulte sua biblioteca.(Acessar)

8
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
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Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT

Rui-Zhu Zhang Yaqun Zou; Te-Cheng Pan; Dessislava Markova; Andrzej Fertala; Ying Hu; Stefano Squarzoni; Umbertina Conti Reed; Suely K. N Marie; Carsten G Bönnemann; Mon-Li Chu

Journal of Biological Chemistry Baltimore v. 285, n. 13, p. 10005-10015, 2010

Baltimore 2010

Acesso online. A biblioteca também possui exemplares impressos.

9
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT

Rui-Zhu Zhang Yaqun Zou; Te-Cheng Pan; Dessislava Markova; Andrzej Fertala; Ying Hu; Stefano Squarzoni; Umbertina Conti Reed; Suely K. N Marie; Carsten G Bönnemann; Mon-Li Chu

Journal of Biological Chemistry Baltimore v. 285, n. 13, p. 10005-10015, 2010

Baltimore 2010

Acesso online. A biblioteca também possui exemplares impressos.

10
Approach to the diagnosis of congenital myopathies
Approach to the diagnosis of congenital myopathies
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Approach to the diagnosis of congenital myopathies

Kathryn N. North Ching H Wang; Nigel Clarke; Heinz Jungbluth; Mariz Vainzof; James J Dowling; Kimberly Amburgey; Susana Quijano-Roy; Alan H Beggs; Caroline Sewry; Nigel G Laing; Carsten G Bönnemann; Members of the International Standard of Care Committee for Congenital Myopathies

Neuromuscular Disorders London v. 24, n. 2, Feb. 2014, p. 97\2013116

London 2014

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Bönnemann, C
  2. Reed, U
  3. Zanoteli, E
  4. Bonnemann, C
  5. Donkervoort, S

Neste Assunto:

  1. Distrofia Muscular
  2. Fenótipos
  3. Enzimas
  4. Estudos De Coortes
  5. Deleção De Genes

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

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