skip to main content
Idioma:
Resultados 1 2 next page
Mostrar Somente
Refinado por: assunto: Genetics remover EZB Electronic Journals Library remover assunto: Life Sciences & Biomedicine remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora
Material Type:
Artigo 		Adicionar ao Meu Espaço

Expression of nifH genes by diazotrophic bacteria in the rhizosphere of short form Spartina alterniflora

Brown, M.M ; Friez, M.J ; Lovell, C.R

FEMS microbiology ecology, 2003-04, Vol.43 (3), p.411-417 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
2
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetically Characterized Positive Control Cell Lines Derived from Residual Clinical Blood Samples

Bernacki, Susan H ; Beck, Jeanne C ; Stankovic, Ana K ; Williams, Laurina O ; Amos, Jean ; Snow-Bailey, Karen ; Farkas, Daniel H ; Friez, Michael J ; Hantash, Feras M ; Matteson, Karla J ; Monaghan, Kristin G ; Muralidharan, Kasinathan ; Pratt, Victoria M ; Prior, Thomas W ; Richie, Kristy L ; Levin, Barbara C ; Rohlfs, Elizabeth M ; Schaefer, Frederick V ; Shrimpton, Antony E ; Spector, Elaine B ; Stolle, Catherine A ; Strom, Charles M ; Thibodeau, Stephen N ; Cole, Eugene C ; Goodman, Barbara K ; Stenzel, Timothy T

Clinical chemistry (Baltimore, Md.), 2005-11, Vol.51 (11), p.2013-2024 [Periódico revisado por pares]

Washington, DC: Am Assoc Clin Chem

Texto completo disponível

Citações Citado por
3
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
Material Type:
Artigo 		Adicionar ao Meu Espaço

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Friez, Michael J ; Jones, Julie R ; Clarkson, Katie ; Lubs, Herbert ; Abuelo, Dianne ; Bier, Jo-Ann Blaymore ; Pai, Shashidhar ; Simensen, Richard ; Williams, Charles ; Giampietro, Philip F ; Schwartz, Charles E ; Stevenson, Roger E

Pediatrics (Evanston), 2006-12, Vol.118 (6), p.e1687-e1695 [Periódico revisado por pares]

United States: Am Acad Pediatrics

Texto completo disponível

Citações Citado por
4
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Schwartz, Charles E ; Tarpey, Patrick S ; Lubs, Herbert A ; Verloes, Alain ; May, Melanie M ; Risheg, Hiba ; Friez, Michael J ; Futreal, P Andrew ; Edkins, Sarah ; Teague, Jon ; Briault, Sylvain ; Skinner, Cindy ; Bauer-Carlin, Astrid ; Simensen, Richard J ; Joseph, Sumy M ; Jones, Julie R ; Gecz, Josef ; Stratton, Michael R ; Raymond, F Lucy ; Stevenson, Roger E

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
5
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

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

Genome Research, 2008-06, Vol.18 (6), p.847-858 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

Texto completo disponível

Citações Citado por
6
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Garbern, James Y. ; Neumann, Manuela ; Trojanowski, John Q. ; Lee, Virginia M.-Y. ; Feldman, Gerald ; Norris, Joy W. ; Friez, Michael J. ; Schwartz, Charles E. ; Stevenson, Roger ; Sima, Anders A. F.

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402 [Periódico revisado por pares]

England: Oxford University Press

Texto completo disponível

Citações Citado por
7
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
8
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Dwivedi, Alka Chaubey Nee ; Lyons, Michael J ; Kwiatkowski, Kat ; Bartel, Frank O ; Friez, Michael J ; Holden, Kenton R ; Fung, Eric T ; DuPont, Barbara R

Molecular cytogenetics, 2014-12, Vol.7 (1), p.93-93, Article 93 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
9
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
10
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
Resultados 1 2 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (14)

Data de Publicação 

De até
Refinar
  1. Antes de2006  (3)
  2. 2006Até2009  (3)
  3. 2010Até2014  (3)
  4. 2015Até2020  (6)
  5. Após 2020  (2)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.