skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: Base de dados/Biblioteca: Gale Academic OneFile remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
Material Type:
Artigo 		Adicionar ao Meu Espaço

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Chizhikov, Victor V ; Krantz, Ian D ; Aldinger, Kimberly A ; Hudgins, Louanne ; Dobyns, William B ; Millen, Kathleen J ; Lehmann, Ordan J ; Bassuk, Alexander G ; Ades, Lesley C

Nature genetics, 2009-09, Vol.41 (9), p.1037-1042 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
2
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

Mowat, D R ; Croaker, G D ; Cass, D T ; Kerr, B A ; Chaitow, J ; Adès, L C ; Chia, N L ; Wilson, M J

Journal of medical genetics, 1998-08, Vol.35 (8), p.617-623 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
3
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Lacombe, Didier ; David, Albert ; Jeffs, Aaron ; Bohring, Axel ; Tchan, Michel ; Wilson, Louise C ; Pearl, Esther ; Cormier-Daire, Valérie ; Hing, Anne V ; Adès, Lesley C ; Stewart, Fiona ; Porteous, Mary E ; Garcia-Miñaur, Sixto ; Robertson, Stephen P ; Jenkins, Zandra A ; Fukuzawa, Ryuji ; Hennekam, Raoul C M ; Morgan, Tim ; Bindoff, Laurence ; Donnai, Dian ; Fiskerstrand, Torunn ; Mansour, Sahar ; Berland, Siren ; Thaller, Christina ; van Kogelenberg, Margriet

Nature genetics, 2009-01, Vol.41 (1), p.95-100 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
Female novelty and the courtship behavior of male guinea pigs (Cavia porcellus)
Female novelty and the courtship behavior of male guinea pigs (Cavia porcellus)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Female novelty and the courtship behavior of male guinea pigs (Cavia porcellus)

Cohn, D W H ; Tokumaru, R S ; Ades, C

Brazilian journal of medical and biological research, 2004-06, Vol.37 (6), p.847-851 [Periódico revisado por pares]

Brazil: Associação Brasileira de Divulgação Científica

Texto completo disponível

Citações Citado por
5
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Jaeckle Santos, Lane J. ; Xing, Chao ; Barnes, Robert B. ; Ades, Lesley C. ; Megarbane, Andre ; Vidal, Christopher ; Xuereb, Angela ; Tarpey, Patrick S. ; Smith, Raffaella ; Khazab, Mahmoud ; Shoubridge, Cheryl ; Partington, Michael ; Futreal, Andrew ; Stratton, Michael R. ; Gecz, Jozef ; Zinn, Andrew R.

Human genetics, 2008-06, Vol.123 (5), p.469-476 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

Texto completo disponível

Citações Citado por
6
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne, Alicia B ; Arts, Peer ; Ha, Thuong T ; Kassahn, Karin S ; Pais, Lynn S ; O'Donnell-Luria, Anne ; Babic, Milena ; Frank, Mahalia S B ; Feng, Jinghua ; Wang, Paul ; Lawrence, David M ; Eshraghi, Leila ; Arriola, Luis ; Toubia, John ; Nguyen, Hung ; McGillivray, George ; Pinner, Jason ; McKenzie, Fiona ; Morrow, Rebecca ; Lipsett, Jill ; Manton, Nick ; Khong, T Yee ; Moore, Lynette ; Liebelt, Jan E ; Schreiber, Andreas W ; King-Smith, Sarah L ; Hardy, Tristan S E ; Jackson, Matilda R ; Barnett, Christopher P ; Scott, Hamish S

Nature medicine, 2023-01, Vol.29 (1), p.180-189 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

Adès, L C ; Haan, E A ; Colley, A F ; Richard, R I

Journal of medical genetics, 1996-08, Vol.33 (8), p.665-671 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
8
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Material Type:
Artigo 		Adicionar ao Meu Espaço

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne, Alicia B ; Arts, Peer ; Ha, Thuong T ; Kassahn, Karin S ; Pais, Lynn S ; O'Donnell-Luria, Anne ; Babic, Milena ; Frank, Mahalia S B ; Feng, Jinghua ; Wang, Paul ; Lawrence, David M ; Eshraghi, Leila ; Arriola, Luis ; Toubia, John ; Nguyen, Hung ; McGillivray, George ; Pinner, Jason ; McKenzie, Fiona ; Morrow, Rebecca ; Lipsett, Jill ; Manton, Nick ; Khong, T Yee ; Moore, Lynette ; Liebelt, Jan E ; Schreiber, Andreas W ; King-Smith, Sarah L ; Hardy, Tristan S E ; Jackson, Matilda R ; Barnett, Christopher P ; Scott, Hamish S

Nature medicine, 2024-01, Vol.30 (1), p.302-302 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
Congenital heart malformation in Yunis-Varón syndrome
Congenital heart malformation in Yunis-Varón syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Congenital heart malformation in Yunis-Varón syndrome

Adès, L C ; Morris, L L ; Richardson, M ; Pearson, C ; Haan, E A

Journal of medical genetics, 1993-09, Vol.30 (9), p.788-792 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
10
Hydrocephalus in Hajdu-Cheney syndrome
Hydrocephalus in Hajdu-Cheney syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hydrocephalus in Hajdu-Cheney syndrome

Adès, L C ; Morris, L L ; Haan, E A

Journal of medical genetics, 1993-02, Vol.30 (2), p.175-175 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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.   

Mostrar Somente

  1. Revistas revisadas por pares (116)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (118)
  2. Reports  (3)
  3. Anais de Congresso  (1)
  4. magazinearticle  (1)
  5. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1993  (13)
  2. 1993Até2001  (17)
  3. 2002Até2008  (27)
  4. 2009Até2016  (34)
  5. Após 2016  (32)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.