skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Genetic Screening remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Lemke, Johannes R. ; Riesch, Erik ; Scheurenbrand, Tim ; Schubach, Max ; Wilhelm, Christian ; Steiner, Isabelle ; Hansen, Jörg ; Courage, Carolina ; Gallati, Sabina ; Bürki, Sarah ; Strozzi, Susi ; Simonetti, Barbara Goeggel ; Grunt, Sebastian ; Steinlin, Maja ; Alber, Michael ; Wolff, Markus ; Klopstock, Thomas ; Prott, Eva C. ; Lorenz, Rüdiger ; Spaich, Christiane ; Rona, Sabine ; Lakshminarasimhan, Maya ; Kröll, Judith ; Dorn, Thomas ; Krämer, Günter ; Synofzik, Matthis ; Becker, Felicitas ; Weber, Yvonne G. ; Lerche, Holger ; Böhm, Detlef ; Biskup, Saskia

Epilepsia (Copenhagen), 2012-08, Vol.53 (8), p.1387-1398 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
2
NRAMP2, a trans-Golgi network-localized manganese transporter, is required for Arabidopsis root growth under manganese deficiency
NRAMP2, a trans-Golgi network-localized manganese transporter, is required for Arabidopsis root growth under manganese deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

NRAMP2, a trans-Golgi network-localized manganese transporter, is required for Arabidopsis root growth under manganese deficiency

Gao, Huiling ; Xie, Wenxiang ; Yang, Changhong ; Xu, Jingyi ; Li, Jingjun ; Wang, Hua ; Chen, Xi ; Huang, Chao‐Feng

The New phytologist, 2018-01, Vol.217 (1), p.179-193 [Periódico revisado por pares]

England: New Phytologist Trust

Texto completo disponível

Citações Citado por
3
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Material Type:
Artigo 		Adicionar ao Meu Espaço

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C. ; Schanze, Denny ; Baynam, Gareth ; Borck, Guntram ; Bramswig, Nuria C. ; Duman, Duygu ; Gilbert‐Dussardier, Brigitte ; Holder‐Espinasse, Muriel ; Itin, Peter ; Johnson, Diana S. ; Joss, Shelagh ; Koillinen, Hannele ; McKenzie, Fiona ; Morton, Jenny ; Nelle, Heike ; Reardon, Willie ; Roll, Claudia ; Salih, Mustafa A. ; Savarirayan, Ravi ; Scurr, Ingrid ; Splitt, Miranda ; Thompson, Elizabeth ; Titheradge, Hannah ; Travers, Colm P. ; Maldergem, Lionel ; Whiteford, Margo ; Wieczorek, Dagmar ; Vandeweyer, Geert ; Trembath, Richard ; Laer, Lut ; Loeys, Bart L. ; Zenker, Martin ; Southgate, Laura ; Wuyts, Wim

Human mutation, 2018-09, Vol.39 (9), p.1246-1261 [Periódico revisado por pares]

United States: Hindawi Limited

Texto completo disponível

Citações Citado por
4
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum
Material Type:
Artigo 		Adicionar ao Meu Espaço

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum

Bartoletti-Stella, Anna ; Vacchiano, Veria ; De Pasqua, Silvia ; Mengozzi, Giacomo ; De Biase, Dario ; Bartolomei, Ilaria ; Avoni, Patrizia ; Rizzo, Giovanni ; Parchi, Piero ; Donadio, Vincenzo ; Chiò, Adriano ; Pession, Annalisa ; Oppi, Federico ; Salvi, Fabrizio ; Liguori, Rocco ; Capellari, Sabina

Journal of neurology, 2021-10, Vol.268 (10), p.3766-3776 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
5
Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease
Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

Bartoletti-Stella, Anna ; Tarozzi, Martina ; Mengozzi, Giacomo ; Asirelli, Francesca ; Brancaleoni, Laura ; Mometto, Nicola ; Stanzani-Maserati, Michelangelo ; Baiardi, Simone ; Linarello, Simona ; Spallazzi, Marco ; Pantieri, Roberta ; Ferriani, Elisa ; Caffarra, Paolo ; Liguori, Rocco ; Parchi, Piero ; Capellari, Sabina

Frontiers in aging neuroscience, 2022-09, Vol.14, p.969817-969817 [Periódico revisado por pares]

Lausanne: Frontiers Research Foundation

Texto completo disponível

Citações Citado por
6
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia

Liu, Yanshan ; Huang, Yingzhi ; Hua, Rui ; Zhao, Xiuli ; Yang, Wei ; Liu, Yaping ; Zhang, Xue

Genetic testing and molecular biomarkers, 2018-08, Vol.22 (8), p.487-491 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

Texto completo disponível

Citações Citado por
7
Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China
Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prevalence of Mutations in Deafness‐Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China

Luo, Jianfen ; Bai, Xiaohui ; Zhang, Fengguo ; Xiao, Yun ; Gu, Lintao ; Han, Yuechen ; Fan, Zhaomin ; Li, Jianfeng ; Xu, Lei ; Wang, Haibo

Annals of human genetics, 2017-11, Vol.81 (6), p.258-266 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
8
Genome editing in diatoms: achievements and goals
Genome editing in diatoms: achievements and goals
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome editing in diatoms: achievements and goals

Kroth, Peter G. ; Bones, Atle M. ; Daboussi, Fayza ; Ferrante, Maria I. ; Jaubert, Marianne ; Kolot, Misha ; Nymark, Marianne ; Río Bártulos, Carolina ; Ritter, Andrés ; Russo, Monia T. ; Serif, Manuel ; Winge, Per ; Falciatore, Angela

Plant cell reports, 2018-10, Vol.37 (10), p.1401-1408 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

Texto completo disponível

Citações Citado por
9
Abridged adapter primers increase the target scope of Hi-Plex
Abridged adapter primers increase the target scope of Hi-Plex
Material Type:
Artigo 		Adicionar ao Meu Espaço

Abridged adapter primers increase the target scope of Hi-Plex

Nguyen-Dumont, Tú ; Hammet, Fleur ; Mahmoodi, Maryam ; Pope, Bernard J ; Giles, Graham G ; Hopper, Graham G ; Southey, Melissa C ; Park, Daniel J

BioTechniques, 2015-01, Vol.58 (1), p.33-36 [Periódico revisado por pares]

England: Future Science Ltd

Texto completo disponível

Citações Citado por
10
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations

Ricci, Maria Teresa ; Pennese, Loredana ; Gismondi, Viviana ; Perfumo, Chiara ; Grasso, Marina ; Gennaro, Elena ; Bruzzi, Paolo ; Varesco, Liliana

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.280-282 [Periódico revisado por pares]

England: 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 (8.297)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (8.552)
  2. Newsletter Articles  (58)
  3. magazinearticle  (57)
  4. Anais de Congresso  (7)
  5. Reports  (6)
  6. Book Chapters  (3)
  7. Conjunto de Dados  (1)
  8. Livros  (1)
  9. Resenhas  (1)
  10. Mais opções open sub menu

Assunto 

  1. Science & Technology  (7.644)
  2. Mutation  (7.206)
  3. Life Sciences & Biomedicine  (6.555)
  4. Humans  (4.684)
  5. Genes  (2.806)
  6. Female  (2.751)
  7. Genetic Testing  (2.490)
  8. Genetic Aspects  (2.366)
  9. Genetics & Heredity  (2.347)
  10. Patients  (2.200)
  11. Male  (2.191)
  12. Diagnosis  (1.933)
  13. Proteins  (1.642)
  14. Genetics  (1.609)
  15. Genomes  (1.608)
  16. Phenotypes  (1.438)
  17. Adult  (1.412)
  18. Dna  (1.336)
  19. Genetic Counseling  (1.296)
  20. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1985  (18)
  2. 1985Até1993  (87)
  3. 1994Até2002  (411)
  4. 2003Até2012  (1.361)
  5. Após 2012  (6.812)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (8.676)
  2. Japonês  (1.062)
  3. Português  (20)
  4. Norueguês  (8)
  5. Alemão  (5)
  6. Francês  (3)
  7. Turco  (3)
  8. Espanhol  (3)
  9. Chinês  (2)
  10. Russo  (1)
  11. Catalão  (1)
  12. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.