skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Refinado por: Nome da Publicação: American Journal of Human Genetics remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family
Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D family

Mariz Vainzof E S Moreira; M Canovas; Oscar T Suzuki; Rita de Cássia M Pavanello; Maria Rita Passos-Bueno; Mayana Zatz; American Society of Human Genetics (49. 1999 San Francisco)

American Journal of Human Genetics Baltimore v. 65, n. 4, suppl., res.2815, oct. 1999

San Francisco 1999

Item não circula. Consulte sua biblioteca.(Acessar)

2
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

3
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

Guilherme L. Yamamoto Wagner A. R Baratela; Tatiana F Almeida; Monize Lazar; Clara L Afonso; Maria K Oyamada; Lisa Suzuki; Luiz A. N Oliveira; Ester Silveira Ramos; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

American Journal of Human Genetics Cambridge v. 94, n. 1, p. 113-119, 2014

Cambridge 2014

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2466445 Estantes Deslizantes )(Acessar)

5
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Suzuki, O.T. ; Sertié, A.L. ; Der Kaloustian, V.M. ; Kok, F. ; Carpenter, M. ; Murray, J. ; Czeizel, A.E. ; Kliemann, S.E. ; Rosemberg, S. ; Monteiro, M. ; Olsen, B.R. ; Passos-Bueno, M.R.

American journal of human genetics, 2002-12, Vol.71 (6), p.1320-1329 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
6
Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria
Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria

Miyamura, Yoshinori ; Suzuki, Tamio ; Kono, Michihiro ; Inagaki, Katsuhiko ; Ito, Shiro ; Suzuki, Noriyuki ; Tomita, Yasushi

American journal of human genetics, 2003-09, Vol.73 (3), p.693-699 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Guan, Min-Xin ; Yan, Qingfeng ; Li, Xiaoming ; Bykhovskaya, Yelena ; Gallo-Teran, Jaime ; Hajek, Petr ; Umeda, Noriko ; Zhao, Hui ; Garrido, Gema ; Mengesha, Emebet ; Suzuki, Tsutomu ; Castillo, Ignacio del ; Peters, Jennifer Lynne ; Li, Ronghua ; Qian, Yaping ; Wang, Xinjian ; Ballana, Ester ; Shohat, Mordechai ; Lu, Jianxin ; Estivill, Xavier ; Watanabe, Kimitsuna ; Fischel-Ghodsian, Nathan

American journal of human genetics, 2006-08, Vol.79 (2), p.291-302 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
8
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Material Type:
Artigo 		Adicionar ao Meu Espaço

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Inagaki, Katsuhiko ; Suzuki, Tamio ; Shimizu, Hiroshi ; Ishii, Norihisa ; Umezawa, Yoshinori ; Tada, Joji ; Kikuchi, Noriaki ; Takata, Minoru ; Takamori, Kenji ; Kishibe, Mari ; Tanaka, Michi ; Miyamura, Yoshinori ; Ito, Shiro ; Tomita, Yasushi

American journal of human genetics, 2004-03, Vol.74 (3), p.466-471 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
9
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
Studies on familial hypotransferrinemia : unique clinical course and molecular pathology
Material Type:
Artigo 		Adicionar ao Meu Espaço

Studies on familial hypotransferrinemia : unique clinical course and molecular pathology

HAYASHI, A ; WADA, Y ; SUZUKI, T ; SHIMIZU, A

American journal of human genetics, 1993-07, Vol.53 (1), p.201-213 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

Texto completo disponível

Citações Citado por
10
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Material Type:
Artigo 		Adicionar ao Meu Espaço

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Vetro, A. ; Pelorosso, C. ; Balestrini, S. ; Masi, A. ; Hambleton, S. ; Argilli, E. ; Conti, V. ; Giubbolini, S. ; Barrick, R. ; Bergant, G. ; Writzl, K. ; Bijlsma, E.K. ; Brunet, T. ; Cacheiro, P. ; Mei, D. ; Devlin, A. ; Hoffer, M.J.V. ; Machol, K. ; Mannaioni, G. ; Sakamoto, M. ; Menezes, M.P. ; Courtin, T. ; Sherr, E. ; Parra, R. ; Richardson, R. ; Roscioli, T. ; Scala, M. ; Stülpnagel, C. von ; Smedley, D. ; Torella, A. ; Tohyama, J. ; Koichihara, R. ; Hamada, K. ; Ogata, K. ; Suzuki, T. ; Sugie, A. ; Smagt, J.J. van der ; Gassen, K. van ; Valence, S. ; Vittery, E. ; Malone, S. ; Kato, M. ; Matsumoto, N. ; Ratto, G.M. ; Guerrini, R.

American Journal of Human Genetics, 2023-08, Vol.110 (8), p.1356-1376

Elsevier

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Data de Publicação 

De até
Refinar
  1. Antes de1994  (21)
  2. 1994Até1999  (15)
  3. 2000Até2005  (13)
  4. 2006Até2017  (15)
  5. Após 2017  (8)
  6. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Passos-Bueno, M
  2. Suzuki, O
  3. Sertié, A
  4. Murray, J
  5. Olsen, B

Neste Assunto:

  1. Humans
  2. Genetics & Heredity
  3. Life Sciences & Biomedicine
  4. Science & Technology
  5. Biological And Medical Sciences

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

Buscando em bases de dados remotas. Favor aguardar.