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Refinado por: assunto: Anormalidades Craniofaciais remover
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1
Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders
Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders
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Unexpected role of SIX1 variants in craniosynostosis expanding the phenotype of SIX1-related disorders

Eduardo Calpena Maud Wurmser; Simon J McGowan; Rodrigo Atique; Débora R Bertola; Michael L Cunningham; Jonas A Gustafson; David Johnson; Jenny E. V Morton; Maria Rita Passos-Bueno; Andre T Timberlake; Richa P Lifton; Steven A Wall; Stephen R. F Twigg; Pascal Maire; Andrew O. M Wilkie

Journal of Medical Genetics London on-line

London 2021

Item não circula. Consulte sua biblioteca.(Acessar)

2
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
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Artigo 		Adicionar ao Meu Espaço

RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Dagan Jenkins Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luís Garcia Alonso NAC; Daniela Franco Bueno; Dian Donnai; Dragana Josifiova; Irene M. J Mathijssen; Jenny E. V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nürnberg; Maria Rita Passos-Bueno; Andrew O. M Wilkie

American Journal of Human Genetics v. 80, n. 6, p. 1162-1170, jun. 2007

Baltimore 2007

Item não circula. Consulte sua biblioteca.(Acessar)

3
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Material Type:
Artigo 		Adicionar ao Meu Espaço

RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

Dagan Jenkins Dominik Seelow; Fernanda Sarquis Jehee; Chad A Perlyn; Luís Garcia Alonso NAC; Daniela Franco Bueno; Dian Donnai; Dragana Josifiova; Irene M. J Mathijssen; Jenny E. V Morton; Karen Helene Orstavik; Elizabeth Sweeney; Steven A Wall; Jeffrey L Marsh; Peter Nürnberg; Maria Rita Passos-Bueno; Andrew O. M Wilkie

American Journal of Human Genetics v. 80, n. 6, p. 1162-1170, jun. 2007

Baltimore 2007

Item não circula. Consulte sua biblioteca.(Acessar)

4
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
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Artigo 		Adicionar ao Meu Espaço

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Irfan Saadi Fowzan S Alkuraya; Stephen S Gisselbrecht; Wolfram Goessling; Resy Cavallesco; Annick Turbe-Doan; Aline L Petrin; James Harris; Ursela Siddiqui; Arthur W Grix Junior; Hanne D Hove; Philippe Leboulch; Thomas W Glover; Cynthia C Morton; Antonio Richieri-Costa; Jeffrey C Murray; Robert P Erickson; Richard L Maas

American Journal of Human Genetics Chicago v. 89, p. 44-55, July 2011

Chicago 2011

Item não circula. Consulte sua biblioteca.(Acessar)

5
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
Material Type:
Artigo 		Adicionar ao Meu Espaço

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Irfan Saadi Fowzan S Alkuraya; Stephen S Gisselbrecht; Wolfram Goessling; Resy Cavallesco; Annick Turbe-Doan; Aline L Petrin; James Harris; Ursela Siddiqui; Arthur W Grix Junior; Hanne D Hove; Philippe Leboulch; Thomas W Glover; Cynthia C Morton; Antonio Richieri-Costa; Jeffrey C Murray; Robert P Erickson; Richard L Maas

American Journal of Human Genetics Chicago v. 89, p. 44-55, July 2011

Chicago 2011

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Wall, S
  2. Passos-Bueno, M
  3. Morton, J
  4. Wilkie, A
  5. Maas, R

Neste Assunto:

  1. Anormalidades Craniofaciais
  2. Craniossinostose
  3. Fenótipos
  4. Deficiência De Proteína
  5. Doenças Hereditárias

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

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