skip to main content
Idioma:
Você quis dizer: frans jean pierre?
Resultados 1 2 3 4 5 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Material Type:
Artigo 		Adicionar ao Meu Espaço

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters Hilde Van Esch; Michael J Friez; Odile Boespflug-Tanguy; Martin Zenker; Angela M Vianna-Morgante; Carla Rosenberg; Jaakko Ignatius; Martine Raynaud; Karen Hollanders; Karen Govaerts; Kris Vandenreijt; Florence Niel; Pierre Blanc; Roger E Stevenson; Jean-Pierre Fryns; Peter Marynen; Charles E Schwartz; Guy Froyen

Genome Research v. 18, p. 847-858, 2008

Woodbury 2008

Item não circula. Consulte sua biblioteca.(Acessar)

2
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
Material Type:
Artigo 		Adicionar ao Meu Espaço

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters Hilde Van Esch; Michael J Friez; Odile Boespflug-Tanguy; Martin Zenker; Angela Maria Vianna-Morgante; Carla Rosenberg; Jaakko Ignatius; Martine Raynaud; Karen Hollanders; Karen Govaerts; Kris Vandenreijt; Florence Niel; Pierre Blanc; Roger E Stevenson; Jean-Pierre Fryns; Peter Marynen; Charles E Schwartz; Guy Froyen

Genome Research v. 18, p. 847-858, 2008

Woodbury 2008

Item não circula. Consulte sua biblioteca.(Acessar)

3
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Somers, Riet ; De Schepper, Sofie ; Denayer, Ellen ; Cools, Jan ; Legius, Eric ; Thomas, Gilles ; Brems, Hilde ; Sahbatou, Mourad ; Taniguchi, Koji ; Kato, Reiko ; Messiaen, Ludwine ; Fryns, Jean-Pierre ; Yoshimura, Akihiko ; Marynen, Peter ; Chmara, Magdalena

Nature genetics, 2007-09, Vol.39 (9), p.1120-1126 [Periódico revisado por pares]

London: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
Chromosome instability is common in human cleavage-stage embryos
Chromosome instability is common in human cleavage-stage embryos
Material Type:
Artigo 		Adicionar ao Meu Espaço

Chromosome instability is common in human cleavage-stage embryos

Vermeesch, Joris R ; Vanneste, Evelyne ; Voet, Thierry ; Le Caignec, Cédric ; Ampe, Michèle ; Konings, Peter ; Melotte, Cindy ; Debrock, Sophie ; Amyere, Mustapha ; Vikkula, Miikka ; Schuit, Frans ; Fryns, Jean-Pierre ; Verbeke, Geert ; D'Hooghe, Thomas ; Moreau, Yves

Nature medicine, 2009-05, Vol.15 (5), p.577-583 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por
5
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males
Material Type:
Artigo 		Adicionar ao Meu Espaço

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Van Esch, Hilde ; Bauters, Marijke ; Ignatius, Jaakko ; Jansen, Mieke ; Raynaud, Martine ; Hollanders, Karen ; Lugtenberg, Dorien ; Bienvenu, Thierry ; Jensen, Lars Riff ; Gécz, Jozef ; Moraine, Claude ; Marynen, Peter ; Fryns, Jean-Pierre ; Froyen, Guy

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

Texto completo disponível

Citações Citado por
6
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

RIVIERE, Jean-Baptiste ; VAN BON, Bregje W. M ; ATKIN, Joan F ; CHASSAING, Nicolas ; DROUIN-GARRAUD, Valerie ; FRY, Andrew E ; FRYNS, Jean-Pierre ; GRIPP, Karen W ; KEMPERS, Marlies ; KLEEFSTRA, Tjitske ; MANCINI, Grazia M. S ; NOWACZYK, Małgorzata J. M ; HOISCHEN, Alexander ; VAN RAVENSWAAIJ-ARTS, Conny M ; ROSCIOLI, Tony ; MARBLE, Michael ; ROSENFELD, Jill A ; SIU, Victoria M ; DE VRIES, Bert B. A ; SHENDURE, Jay ; VERLOES, Alain ; VELTMAN, Joris A ; BRUNNER, Han G ; KHOLMANSKIKH, Stanislav S ; ELIZABETH ROSS, M ; PILZ, Daniela T ; DOBYNS, William B ; O'ROAK, Brian J ; GILISSEN, Christian ; GIJSEN, Sabine ; SULLIVAN, Christopher T ; CHRISTIAN, Susan L ; ABDUL-RAHMAN, Omar A

Nature genetics, 2012-04, Vol.44 (4), p.440-444 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Poirier, Karine ; Keays, David A ; Francis, Fiona ; Saillour, Yoann ; Bahi, Nadia ; Manouvrier, Sylvie ; Fallet-Bianco, Catherine ; Pasquier, Laurent ; Toutain, Annick ; Tuy, Françoise Phan Dinh ; Bienvenu, Thierry ; Joriot, Sylvie ; Odent, Sylvie ; Ville, Dorothée ; Desguerre, Isabelle ; Goldenberg, Alice ; Moutard, Marie-Laure ; Fryns, Jean-Pierre ; van Esch, Hilde ; Harvey, Robert J ; Siebold, Christian ; Flint, Jonathan ; Beldjord, Chérif ; Chelly, Jamel

Human mutation, 2007-11, Vol.28 (11), p.1055-1064 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
8
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

Robberecht, Caroline ; Pexsters, Anne ; Deprest, Jan ; Fryns, Jean-Pierre ; D'Hooghe, Thomas ; Vermeesch, Joris Robert

Prenatal diagnosis, 2012-10, Vol.32 (10), p.933-942 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
9
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Majewski, Jacek ; Schwartzentruber, Jeremy A. ; Caqueret, Aurore ; Patry, Lysanne ; Marcadier, Janet ; Fryns, Jean-Pierre ; Boycott, Kym M. ; Ste-Marie, Louis-Georges ; McKiernan, Fergus E. ; Marik, Ivo ; Van Esch, Hilde ; Michaud, Jacques L. ; Samuels, Mark E.

Human mutation, 2011-10, Vol.32 (10), p.1114-1117 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por
10
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos
Material Type:
Artigo 		Adicionar ao Meu Espaço

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

Voet, Thierry ; Vanneste, Evelyne ; Van der Aa, Niels ; Melotte, Cindy ; Jackmaert, Sigrun ; Vandendael, Tamara ; Declercq, Matthias ; Debrock, Sophie ; Fryns, Jean-Pierre ; Moreau, Yves ; D'Hooghe, Thomas ; Vermeesch, Joris R.

Human mutation, 2011-07, Vol.32 (7), p.783-793 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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. Recursos Online (588)
  2. Revistas revisadas por pares (420)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (558)
  2. Reports  (19)
  3. Outros  (5)
  4. Verbetes  (4)
  5. Book Chapters  (2)
  6. Recursos Textuais  (1)
  7. Livros  (1)
  8. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1988  (16)
  2. 1988Até1995  (69)
  3. 1996Até2003  (181)
  4. 2004Até2012  (300)
  5. Após 2012  (25)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (584)
  2. Japonês  (60)
  3. Holandês  (5)
  4. Russo  (1)
  5. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Govaerts, K
  2. Vandenreijt, K
  3. Blanc, P
  4. Zenker, M
  5. Van Esch, H

Neste Assunto:

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

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

Buscando em bases de dados remotas. Favor aguardar.