skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Medical Sciences remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction
Material Type:
Artigo 		Adicionar ao Meu Espaço

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Robertson, Nahid G. ; Jones, Sherri M. ; Sivakumaran, Theru A. ; Giersch, Anne B.S. ; Jurado, Sara A. ; Call, Linda M. ; Miller, Constance E. ; Maison, Stéphane F. ; Liberman, M. Charles ; Morton, Cynthia C.

Human molecular genetics, 2008-11, Vol.17 (21), p.3426-3434 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível

Citações Citado por
2
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Material Type:
Artigo 		Adicionar ao Meu Espaço

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

LEMMERS, Richard J. L. F ; TAWIL, Rabi ; KROM, Yvonne D ; KLOOSTER, Rinse ; YU SUN ; DEN DUNNEN, Johan T ; HELMER, Quinta ; DONLIN-SMITH, Colleen M ; PADBERG, George W ; VAN ENGELEN, Baziel G. M ; DE GREEF, Jessica C ; AARTSMA-RUS, Annemieke M ; PETEK, Lisa M ; FRANTS, Rune R ; DE VISSER, Marianne ; DESNUELLE, Claude ; SACCONI, Sabrina ; FILIPPOVA, Galina N ; BAKKER, Bert ; BAMSHAD, Michael J ; TAPSCOTT, Stephen J ; MILLER, Daniel G ; VAN DER MAAREL, Silvere M ; BALOG, Judit ; BLOCK, Gregory J ; SANTEN, Gijs W. E ; AMELL, Amanda M ; VAN DER VLIET, Patrick J ; ALMOMANI, Rowida ; STRAASHEIJM, Kirsten R

Nature genetics, 2012-12, Vol.44 (12), p.1370-1374 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
3
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

ZHI JIANG ZANG ; CUTCUTACHE, Ioana ; HON LIM, Kiat ; KIAT ONG, Choon ; HUANG, Dachuan ; YUNG CHIN, Sze ; BEEHUAT TAN, Lain ; CHUAN YOUNG NG, Cedric ; WILLIE YU ; YINGTING WU ; LEE, Minghui ; WU, Jeanie ; POON, Song Ling ; POH, Dianne ; KEAT WAN, Wei ; YOUNG RHA, Sun ; SO, Jimmy ; SALTO-TELLEZ, Manuel ; GUAN YEOH, Khay ; WAI KEONG WONG ; ZHU, Yi-Jun ; FUTREAL, P. Andrew ; PANG, Brendan ; SHEN LI ZHANG ; YIJUN RUAN ; HILLMER, Axel M ; BERTRAND, Denis ; NAGARAJAN, Niranjan ; ROZEN, Steve ; TEAN TEH, Bin ; TAN, Patrick ; MCPHERSON, John R ; JIONG TAO ; RAJASEGARAN, Vikneswari ; HONG LEE HENG ; NIANTAO DENG ; GAN, Anna

Nature genetics, 2012-05, Vol.44 (5), p.570-574 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
The evaluation of cascade testing for familial hypercholesterolemia
The evaluation of cascade testing for familial hypercholesterolemia
Material Type:
Artigo 		Adicionar ao Meu Espaço

The evaluation of cascade testing for familial hypercholesterolemia

Morris, Joan K. ; Wald, David S. ; Wald, Nicholas J.

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.78-84 [Periódico revisado por pares]

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

Texto completo disponível

Citações Citado por
5
A genome-wide scan for common alleles affecting risk for autism
A genome-wide scan for common alleles affecting risk for autism
Material Type:
Artigo 		Adicionar ao Meu Espaço

A genome-wide scan for common alleles affecting risk for autism

Pinto, Dalila ; Regan, Regina ; Magalhaes, Tiago R. ; Abrahams, Brett S. ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Brennan, Sean ; Carson, Andrew R. ; Casallo, Guillermo ; Chu, Su H. ; Cochrane, Lynne ; Dawson, Geraldine ; de Jonge, Maretha ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Fernandez, Bridget A. ; Fombonne, Eric ; Freitag, Christine M. ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Heron, Elizabeth A. ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Kim, Cecilia ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Leboyer, Marion ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Marshall, Christian R. ; McConachie, Helen ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roge, Bernadette ; Bierut, Laura J. ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Stoppioni, Vera ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Van Engeland, Herman ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Wijsman, Ellen M. ; Devlin, Bernie ; Hallmayer, Joachim

Human molecular genetics, 2010-10, Vol.19 (20), p.4072-4082 [Periódico revisado por pares]

Oxford: Oxford University Press

Texto completo disponível

Citações Citado por
6
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

EMOND, Mary J ; LOUIE, Tin ; BARNES, Kathleen C ; GIBSON, Ronald L ; BAMSHAD, Michael J ; EMERSON, Julia ; WEI ZHAO ; MATHIAS, Rasika A ; KNOWLES, Michael R ; WRIGHT, Fred A ; RIEDER, Mark J ; TABOR, Holly K ; NICKERSON, Deborah A

Nature genetics, 2012-08, Vol.44 (8), p.886-889 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

Zhang, Zhenlin ; Xia, Weibo ; He, Jinwei ; Zhang, Zeng ; Ke, Yaohua ; Yue, Hua ; Wang, Chun ; Zhang, Hao ; Gu, Jiemei ; Hu, Weiwei ; Fu, Wenzhen ; Hu, Yunqiu ; Li, Miao ; Liu, Yujuan

American journal of human genetics, 2012-01, Vol.90 (1), p.125-132 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
8
Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma
Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma

SUNG, Wing-Kin ; HANCHENG ZHENG ; MULAWADI, Fabianus H ; WONG, Kwong F ; LIU, Angela M ; POON, Ronnie T ; SHEUNG TAT FAN ; CHAN, Kwong L ; ZHUOLIN GONG ; YUJIE HU ; ZHAO LIN ; GUAN WANG ; SHUYU LI ; QINGHUI ZHANG ; BARBER, Thomas D ; CHOU, Wen-Chi ; AGGARWAL, Amit ; KE HAO ; WEI ZHOU ; CHUNSHENG ZHANG ; HARDWICK, James ; BUSER, Carolyn ; JIANGCHUN XU ; RONGHUA CHEN ; ZHENGYAN KAN ; HONGYUE DAI ; MAO MAO ; REINHARD, Christoph ; JUN WANG ; LUK, John M ; XIAO LIU ; YINGRUI LI ; LEE, Nikki P ; LEE, Wah H ; ARIYARATNE, Pramila N ; TENNAKOON, Chandana

Nature genetics, 2012-07, Vol.44 (7), p.765-769 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Material Type:
Artigo 		Adicionar ao Meu Espaço

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

Wu, Michael C. ; Lee, Seunggeun ; Cai, Tianxi ; Li, Yun ; Boehnke, Michael ; Lin, Xihong

American journal of human genetics, 2011-07, Vol.89 (1), p.82-93 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

Texto completo disponível

Citações Citado por
10
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

TSOI, Lam C ; SPAIN, Sarah L ; KANG, Hyun M ; ALLEN, Michael H ; MCMANUS, Ross ; NOVELLI, Giuseppe ; SAMUELSSON, Lena ; SCHALKWIJK, Joost ; STAHLE, Mona ; BURDEN, A. David ; SMITH, Catherine H ; CORK, Michael J ; KNIGHT, Jo ; ESTIVILL, Xavier ; BOWCOCK, Anne M ; KRUEGER, Gerald G ; WEGER, Wolfgang ; WORTHINGTON, Jane ; TAZI-AHNINI, Rachid ; NESTLE, Frank O ; HAYDAY, Adrian ; HOFFMANN, Per ; WINKELMANN, Juliane ; ELLINGHAUS, Eva ; WIJMENGA, Cisca ; LANGFORD, Cordelia ; EDKINS, Sarah ; ANDREWS, Robert ; BLACKBURN, Hannah ; STRANGE, Amy ; BAND, Gavin ; PEARSON, Richard D ; VUKCEVIC, Damjan ; SPENCER, Chris C. A ; STUART, Philip E ; DELOUKAS, Panos ; MROWIETZ, Ulrich ; SCHREIBER, Stefan ; WEIDINGER, Stephan ; KOKS, Sulev ; KINGO, Külli ; ESKO, Tonu ; METSPALU, Andres ; LIM, Henry W ; VOORHEES, John J ; CAPON, Francesca ; WEICHENTHAL, Michael ; WICHMANN, H. Erich ; CHANDRAN, Vinod ; ROSEN, Cheryl F ; JUN DING ; YANMING LI ; TEJASVI, Trilokraj ; GUDJONSSON, Johann E

Nature genetics, 2012-12, Vol.44 (12), p.1341-1348 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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. Revistas revisadas por pares (52.983)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (59.074)
  2. Livros  (96)
  3. Anais de Congresso  (6)
  4. Book Chapters  (3)
  5. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1990  (5.885)
  2. 1990Até1997  (12.913)
  3. 1998Até2005  (20.425)
  4. 2006Até2014  (19.970)
  5. Após 2014  (36)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (59.178)
  2. Japonês  (11.294)
  3. Alemão  (9)
  4. Francês  (4)
  5. Catalão  (1)
  6. Italiano  (1)
  7. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.