skip to main content
Idioma:
Você quis dizer: fritz michael j?
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
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E. ; Stevenson, Roger E. ; Skinner, Steven A. ; DuPont, Barbara R. ; Fletcher, Robin S. ; Balci, Tugce B. ; Siu, Victoria Mok ; Granadillo, Jorge L. ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J. ; van Haelst, Mieke M. ; Mannens, Marcel M.A.M. ; Louie, Raymond J. ; Lee, Jennifer A. ; Tedder, Matthew L. ; Alders, Marielle

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
4
ACMG clinical laboratory standards for next-generation sequencing
ACMG clinical laboratory standards for next-generation sequencing
Material Type:
Artigo 		Adicionar ao Meu Espaço

ACMG clinical laboratory standards for next-generation sequencing

Rehm, Heidi L. ; Bale, Sherri J. ; Bayrak-Toydemir, Pinar ; Berg, Jonathan S. ; Brown, Kerry K. ; Deignan, Joshua L. ; Friez, Michael J. ; Funke, Birgit H. ; Hegde, Madhuri R. ; Lyon, Elaine

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
5
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

Spellicy, Catherine J ; Norris, Joy ; Bend, Renee ; Bupp, Caleb ; Mester, Paul ; Reynolds, Tracy ; Dean, Jane ; Peng, Yunhui ; Alexov, Emil ; Schwartz, Charles E ; Stevenson, Roger S ; J Friez, Michael

European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.420-427 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
6
Autistic Disorder: A 20 Year Chronicle
Autistic Disorder: A 20 Year Chronicle
Material Type:
Artigo 		Adicionar ao Meu Espaço

Autistic Disorder: A 20 Year Chronicle

Skinner, Cindy ; Pauly, Rini ; Skinner, Steven A. ; Schroer, Richard J. ; Simensen, Richard J. ; Taylor, Harold A. ; Friez, Michael J. ; DuPont, Barbara R. ; Stevenson, Roger E.

Journal of autism and developmental disorders, 2021-02, Vol.51 (2), p.677-684 [Periódico revisado por pares]

New York: Springer US

Texto completo disponível

Citações Citado por
7
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Vallianatos, Christina N ; Farrehi, Clara ; Friez, Michael J ; Burmeister, Margit ; Keegan, Catherine E ; Iwase, Shigeki

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

Texto completo disponível

Citações Citado por
8
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

Texto completo disponível

Citações Citado por
9
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy, Catherine J ; Peng, Yunhui ; Olewiler, Leah ; Cathey, Sara S ; Rogers, R Curtis ; Bartholomew, Dennis ; Johnson, Jacob ; Alexov, Emil ; Lee, Jennifer A ; Friez, Michael J ; Jones, Julie R

Journal of human genetics, 2019-06, Vol.64 (6), p.561-572 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
10
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling
Material Type:
Artigo 		Adicionar ao Meu Espaço

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

Zhou, Haiying ; Spaeth, Jason M ; Kim, Nam Hee ; Xu, Xuan ; Friez, Michael J ; Schwartz, Charles E ; Boyer, Thomas G

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (48), p.19763-19768 [Periódico revisado por pares]

United States: National Academy of Sciences

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 (109)
  2. Revistas revisadas por pares (103)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (108)
  2. Conjunto de Dados  (9)
  3. Reports  (8)
  4. Book Chapters  (2)
  5. Web Resources  (1)
  6. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2002  (16)
  2. 2002Até2006  (15)
  3. 2007Até2011  (22)
  4. 2012Até2017  (31)
  5. Após 2017  (45)
  6. 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. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Male

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

Buscando em bases de dados remotas. Favor aguardar.