skip to main content
Idioma:
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
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Paul N. Valdmanis Inge A Meijer; Annie Reynolds; Adrienne Lei; Patrick MacLeod; David Schlesinger; Mayana Zatz; Evan Reid; Patrick A Dion; Pierre Drapeau; Guy A Rouleau

American Journal of Human Genetics v. 80, n. 1, p. 152-161, 2007

Cambridge 2007

Item não circula. Consulte sua biblioteca.(Acessar)

2
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Paul N. Valdmanis Inge A Meijer; Annie Reynolds; Adrienne Lei; Patrick MacLeod; David Schlesinger; Mayana Zatz; Evan Reid; Patrick A Dion; Pierre Drapeau; Guy A Rouleau

American Journal of Human Genetics v. 80, n. 1, p. 152-161, 2007

Cambridge 2007

Item não circula. Consulte sua biblioteca.(Acessar)

3
Elevated Expression and Genetic Association Links the SOCS3 Gene to Atopic Dermatitis
Elevated Expression and Genetic Association Links the SOCS3 Gene to Atopic Dermatitis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Elevated Expression and Genetic Association Links the SOCS3 Gene to Atopic Dermatitis

Ekelund, E. ; Sääf, A. ; Tengvall-Linder, M. ; Melen, E. ; Link, J. ; Barker, J. ; Reynolds, N.J. ; Meggitt, S.J. ; Kere, J. ; Wahlgren, C.-F. ; Pershagen, G. ; Wickman, M. ; Nordenskjöld, M. ; Kockum, I. ; Bradley, M.

American journal of human genetics, 2006-06, Vol.78 (6), p.1060-1065 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
4
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease

Vergnano, Marta ; Mockenhaupt, Maja ; Benzian-Olsson, Natashia ; Paulmann, Maren ; Grys, Katarzyna ; Mahil, Satveer K. ; Chaloner, Charlotte ; Barbosa, Ines A. ; August, Suzannah ; Burden, A. David ; Choon, Siew-Eng ; Cooper, Hywel ; Navarini, Alex A. ; Reynolds, Nick J. ; Wahie, Shyamal ; Warren, Richard B. ; Wright, Andrew ; Abraham, Thamir ; Ali, Mahmud ; August, Suzannah ; Baudry, David ; Bewley, Anthony ; Cooper, Hywel ; Griffiths, Christopher E.M. ; Ingram, John ; Kelly, Susan ; Korshid, Mohsen ; Ladoyanni, Effie ; McKenna, John ; Meynell, Freya ; Parslew, Richard ; Patel, Prakash ; Pushparajah, Angela ; Reynolds, Nick ; Smith, Catherine ; Wahie, Shyamal ; Warren, Richard ; Wright, Andrew ; Huffmeier, Ulrike ; Baum, Patrick ; Visvanathan, Sudha ; Barker, Jonathan N. ; Smith, Catherine H. ; Capon, Francesca

American journal of human genetics, 2020-09, Vol.107 (3), p.539-543 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
5
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

Vergnano, Marta ; Mockenhaupt, Maja ; Benzian-Olsson, Natashia ; Paulmann, Maren ; Grys, Katarzyna ; Mahil, Satveer K. ; Chaloner, Charlotte ; Barbosa, Ines A. ; August, Suzannah ; Burden, A. David ; Choon, Siew-Eng ; Cooper, Hywel ; Navarini, Alex A. ; Reynolds, Nick J. ; Wahie, Shyamal ; Warren, Richard B. ; Wright, Andrew ; Abraham, Thamir ; Ali, Mahmud ; Baudry, David ; Bewley, Anthony ; Griffiths, Christopher E.M. ; Ingram, John ; Kelly, Susan ; Korshid, Mohsen ; Ladoyanni, Effie ; McKenna, John ; Meynell, Freya ; Parslew, Richard ; Patel, Prakash ; Pushparajah, Angela ; Reynolds, Nick ; Smith, Catherine ; Warren, Richard ; Huffmeier, Ulrike ; Baum, Patrick ; Visvanathan, Sudha ; Barker, Jonathan N. ; Smith, Catherine H. ; Capon, Francesca

American journal of human genetics, 2021-04, Vol.108 (4), p.757-757 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
6
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Material Type:
Artigo 		Adicionar ao Meu Espaço

Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12

Kurreeman, Fina A.S. ; Stahl, Eli A. ; Okada, Yukinori ; Liao, Katherine ; Diogo, Dorothée ; Raychaudhuri, Soumya ; Freudenberg, Jan ; Kochi, Yuta ; Patsopoulos, Nikolaos A. ; Gupta, Namrata ; Sandor, Cynthia ; Bang, So-Young ; Lee, Hye-Soon ; Padyukov, Leonid ; Suzuki, Akari ; Siminovitch, Kathy ; Worthington, Jane ; Gregersen, Peter K. ; Hughes, Laura B. ; Reynolds, Richard J. ; Bridges, S. Louis ; Bae, Sang-Cheol ; Yamamoto, Kazuhiko ; Plenge, Robert M.

American journal of human genetics, 2012-03, Vol.90 (3), p.524-532 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
7
Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Valdmanis, Paul N. ; Meijer, Inge A. ; Reynolds, Annie ; Lei, Adrienne ; MacLeod, Patrick ; Schlesinger, David ; Zatz, Mayana ; Reid, Evan ; Dion, Patrick A. ; Drapeau, Pierre ; Rouleau, Guy A.

American journal of human genetics, 2007-01, Vol.80 (1), p.152-161 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
8
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Khan, Tahir N. ; Khan, Kamal ; Sadeghpour, Azita ; Reynolds, Hannah ; Perilla, Yezmin ; McDonald, Marie T. ; Gallentine, William B. ; Baig, Shahid M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, Nicholas

American journal of human genetics, 2019-01, Vol.104 (1), p.94-111 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

Citações Citado por
9
A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)
Material Type:
Artigo 		Adicionar ao Meu Espaço

A Spectrum of Mutations in the Second Gene for Autosomal Dominant Polycystic Kidney Disease (PKD2)

Veldhuisen, B. ; Saris, J.J. ; de Haij, S. ; Hayashi, T. ; Reynolds, D.M. ; Mochizuki, T. ; Elles, R. ; Fossdal, R. ; Bogdanova, N. ; Dijk, M. A. van ; Coto, E. ; Ravine, D. ; Nôrby, S. ; Verellen-Dumoulin, C. ; Breuning, M.H. ; Somlo, S. ; Peters, D.J.M.

American journal of human genetics, 1997-09, Vol.61 (3), p.547-555 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Mutations in the KlAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
Mutations in the KlAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the KlAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Valdmanis, Paul N ; Meijer, Inge A ; Reynolds, Annje ; Lei, Adrienne

American journal of human genetics, 2007-01, Vol.80 (1), p.152 [Periódico revisado por pares]

Chicago: Cell Press

Texto completo disponível

Citações Citado por

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (9)
  2. Revistas revisadas por pares (9)

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Lei, A
  2. Reynolds, A
  3. MacLeod, P
  4. Drapeau, P
  5. Rouleau, G

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.