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Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
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Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

Tucker, Tracy ; Marra, Marco ; Friedman, Jan M.

American journal of human genetics, 2009-08, Vol.85 (2), p.142-154 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data
Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data
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Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

Flickinger, Matthew ; Jun, Goo ; Abecasis, Gonçalo R. ; Boehnke, Michael ; Kang, Hyun Min

American journal of human genetics, 2015-08, Vol.97 (2), p.284-290 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
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Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

Xi, Zhengrui ; Zinman, Lorne ; Moreno, Danielle ; Schymick, Jennifer ; Liang, Yan ; Sato, Christine ; Zheng, Yonglan ; Ghani, Mahdi ; Dib, Samar ; Keith, Julia ; Robertson, Janice ; Rogaeva, Ekaterina

American journal of human genetics, 2013-06, Vol.92 (6), p.981-989 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
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Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Bogliolo, Massimo ; Schuster, Beatrice ; Stoepker, Chantal ; Derkunt, Burak ; Su, Yan ; Raams, Anja ; Trujillo, Juan P. ; Minguillón, Jordi ; Ramírez, María J. ; Pujol, Roser ; Casado, José A. ; Baños, Rocío ; Rio, Paula ; Knies, Kerstin ; Zúñiga, Sheila ; Benítez, Javier ; Bueren, Juan A. ; Jaspers, Nicolaas G.J. ; Schärer, Orlando D. ; de Winter, Johan P. ; Schindler, Detlev ; Surrallés, Jordi

American journal of human genetics, 2013-05, Vol.92 (5), p.800-806 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
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Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements

Grundberg, Elin ; Meduri, Eshwar ; Sandling, Johanna K. ; Hedman, Åsa K. ; Keildson, Sarah ; Buil, Alfonso ; Busche, Stephan ; Yuan, Wei ; Nisbet, James ; Sekowska, Magdalena ; Wilk, Alicja ; Barrett, Amy ; Small, Kerrin S. ; Ge, Bing ; Caron, Maxime ; Shin, So-Youn ; Ahmadi, Kourosh R. ; Ainali, Chrysanthi ; Barrett, Amy ; Bataille, Veronique ; Bell, Jordana T. ; Buil, Alfonso ; Deloukas, Panos ; Dermitzakis, Emmanouil T. ; Dimas, Antigone S. ; Durbin, Richard ; Glass, Daniel ; Grundberg, Elin ; Hassanali, Neelam ; Hedman, Åsa K. ; Ingle, Catherine ; Knowles, David ; Krestyaninova, Maria ; Lindgren, Cecilia M. ; Lowe, Christopher E. ; McCarthy, Mark I. ; Meduri, Eshwar ; di Meglio, Paola ; Min, Josine L. ; Montgomery, Stephen B. ; Nestle, Frank O. ; Nica, Alexandra C. ; Nisbet, James ; O’Rahilly, Stephen ; Parts, Leopold ; Potter, Simon ; Sandling, Johanna ; Sekowska, Magdalena ; Shin, So-Youn ; Small, Kerrin S. ; Soranzo, Nicole ; Spector, Tim D. ; Surdulescu, Gabriela ; Travers, Mary E. ; Tsaprouni, Loukia ; Tsoka, Sophia ; Wilk, Alicja ; Yang, Tsun-Po ; Zondervan, Krina T. ; Lathrop, Mark ; Dermitzakis, Emmanouil T. ; McCarthy, Mark I. ; Spector, Timothy D. ; Bell, Jordana T. ; Deloukas, Panos

American journal of human genetics, 2013-11, Vol.93 (5), p.876-890 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries
Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries
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Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries

Carpenter, Meredith L. ; Buenrostro, Jason D. ; Valdiosera, Cristina ; Schroeder, Hannes ; Allentoft, Morten E. ; Sikora, Martin ; Rasmussen, Morten ; Gravel, Simon ; Guillén, Sonia ; Nekhrizov, Georgi ; Leshtakov, Krasimir ; Dimitrova, Diana ; Theodossiev, Nikola ; Pettener, Davide ; Luiselli, Donata ; Sandoval, Karla ; Moreno-Estrada, Andrés ; Li, Yingrui ; Wang, Jun ; Gilbert, M. Thomas P. ; Willerslev, Eske ; Greenleaf, William J. ; Bustamante, Carlos D.

American journal of human genetics, 2013-11, Vol.93 (5), p.852-864 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Targeted long-read sequencing identifies missing disease-causing variation
Targeted long-read sequencing identifies missing disease-causing variation
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Targeted long-read sequencing identifies missing disease-causing variation

Miller, Danny E. ; Sulovari, Arvis ; Wang, Tianyun ; Loucks, Hailey ; Hoekzema, Kendra ; Munson, Katherine M. ; Lewis, Alexandra P. ; Fuerte, Edith P. Almanza ; Paschal, Catherine R. ; Walsh, Tom ; Thies, Jenny ; Bennett, James T. ; Glass, Ian ; Dipple, Katrina M. ; Patterson, Karynne ; Bonkowski, Emily S. ; Nelson, Zoe ; Squire, Audrey ; Sikes, Megan ; Beckman, Erika ; Bennett, Robin L. ; Earl, Dawn ; Lee, Winston ; Allikmets, Rando ; Perlman, Seth J. ; Chow, Penny ; Hing, Anne V. ; Wenger, Tara L. ; Adam, Margaret P. ; Sun, Angela ; Lam, Christina ; Chang, Irene ; Zou, Xue ; Austin, Stephanie L. ; Huggins, Erin ; Safi, Alexias ; Iyengar, Apoorva K. ; Reddy, Timothy E. ; Majoros, William H. ; Allen, Andrew S. ; Crawford, Gregory E. ; Kishnani, Priya S. ; King, Mary-Claire ; Cherry, Tim ; Chong, Jessica X. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Eichler, Evan E.

American journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
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Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

Fliegauf, Manfred ; L. Bryant, Vanessa ; Frede, Natalie ; Slade, Charlotte ; Woon, See-Tarn ; Lehnert, Klaus ; Winzer, Sandra ; Bulashevska, Alla ; Scerri, Thomas ; Leung, Euphemia ; Jordan, Anthony ; Keller, Baerbel ; de Vries, Esther ; Cao, Hongzhi ; Yang, Fang ; Schäffer, Alejandro A. ; Warnatz, Klaus ; Browett, Peter ; Douglass, Jo ; Ameratunga, Rohan V. ; van der Meer, Jos W.M. ; Grimbacher, Bodo

American journal of human genetics, 2015-09, Vol.97 (3), p.389-403 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola, Laura M. ; Jarvik, Gail P. ; Leo, Michael C. ; McLaughlin, Heather M. ; Akkari, Yassmine ; Amaral, Michelle D. ; Berg, Jonathan S. ; Biswas, Sawona ; Bowling, Kevin M. ; Conlin, Laura K. ; Cooper, Greg M. ; Dorschner, Michael O. ; Dulik, Matthew C. ; Ghazani, Arezou A. ; Ghosh, Rajarshi ; Green, Robert C. ; Hart, Ragan ; Horton, Carrie ; Johnston, Jennifer J. ; Lebo, Matthew S. ; Milosavljevic, Aleksandar ; Ou, Jeffrey ; Pak, Christine M. ; Patel, Ronak Y. ; Punj, Sumit ; Richards, Carolyn Sue ; Salama, Joseph ; Strande, Natasha T. ; Yang, Yaping ; Plon, Sharon E. ; Biesecker, Leslie G. ; Rehm, Heidi L.

American journal of human genetics, 2016-06, Vol.98 (6), p.1067-1076 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
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Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma

Zhang, Ling ; Zhou, Yong ; Cheng, Caixia ; Cui, Heyang ; Cheng, Le ; Kong, Pengzhou ; Wang, Jiaqian ; Li, Yin ; Chen, Wenliang ; Song, Bin ; Wang, Fang ; Jia, Zhiwu ; Li, Lin ; Li, Yaoping ; Yang, Bin ; Liu, Jing ; Shi, Ruyi ; Bi, Yanghui ; Zhang, Yanyan ; Wang, Juan ; Zhao, Zhenxiang ; Hu, Xiaoling ; Yang, Jie ; Li, Hongyi ; Gao, Zhibo ; Chen, Gang ; Huang, Xuanlin ; Yang, Xukui ; Wan, Shengqing ; Chen, Chao ; Li, Bin ; Tan, Yongkai ; Chen, Longyun ; He, Minghui ; Xie, Sha ; Li, Xiangchun ; Zhuang, Xuehan ; Wang, Mengyao ; Xia, Zhi ; Luo, Longhai ; Ma, Jie ; Dong, Bing ; Zhao, Jiuzhou ; Song, Yongmei ; Ou, Yunwei ; Li, Enming ; Xu, Liyan ; Wang, Jinfen ; Xi, Yanfeng ; Li, Guodong ; Xu, Enwei ; Liang, Jianfang ; Yang, Xiaofeng ; Guo, Jiansheng ; Chen, Xing ; Zhang, Yanbo ; Li, Qingshan ; Liu, Lixin ; Li, Yingrui ; Zhang, Xiuqing ; Yang, Huanming ; Lin, Dongxin ; Cheng, Xiaolong ; Guo, Yongjun ; Wang, Jun ; Zhan, Qimin ; Cui, Yongping

American journal of human genetics, 2015-04, Vol.96 (4), p.597-611 [Periódico revisado por pares]

United States: Elsevier Inc

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