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1
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Uirá Souto Melo Devon Bonner; Kevin C. Kent Lloyd; Ala Moshiri; Brandon Willis; Louise Lanoue; Lynette Bower; Brian C Leonard; Davi Jardim Martins; Fernando Gomes; Felipe de Souza Leite; Danyllo Oliveira Danyllo Felipe de Oliveira; João Paulo Kitajima Joao Paulo Fumio Whitaker Kitajima; Fabiola P Monteiro Fabiola Paoli Mendes Monteiro; Mayana Zatz; Carlos Frederico Martins Menck; Matthew T Wheeler; Jonathan A Bernstein; Kevin Dumas; Elizabeth Spiteri; Nataliya Di Donato; Arne Jahn; Mais Hashem Mais Omar Hashem; Hessa S Alsaif; Aziza Chedrawi Aziza K. Chedrawi; Fowzan S Alkuraya; Fernando Kok; Heather M Byers

Genetics in Medicine Philadelphia v. 23, n. 4, p. 6611-668, 2021

Philadelphia 2021

Item não circula. Consulte sua biblioteca.(Acessar)

2
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
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Artigo 		Adicionar ao Meu Espaço

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Renata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C Schutte

Genetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009

Maryland 2009

Item não circula. Consulte sua biblioteca.(Acessar)

3
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Renata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C Schutte

Genetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009

Maryland 2009

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Hoper, S
  2. Richieri-Costa, A
  3. Bale, S
  4. Marazita, M
  5. Katz, L

Neste Assunto:

  1. Fissura Palatina
  2. Mutação
  3. Análise De Sequência De Dna
  4. Lábio Fissurado
  5. Microbiologia

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

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