Results 91 to 100 of about 215,208 (174)

Drosophila Proteome; Exome Re-sequencing; Sequencing in Nanopores

BioTechniques, 2009
K. Nybo, B. Perry
doaj   +1 more source

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency [PDF]

, 2011
Linghua Wang, Shuichi Tsutsumi, Tokuichi Kawaguchi, Koichi Nagasaki, Kenji Tatsuno, Shogo Yamamoto, Fei Sang, Kohtaro Sonoda, Minoru Sugawara, Akio Saiura, Seiko Hirono, Hiroki Yamaue, Yoshio Miki, Minoru Isomura, Yasushi Totoki, Genta Nagae, Takayuki Isagawa, Hiroki Ueda, Satsuki Murayama-Hosokawa, Tatsuhiro Shibata, Hiromi Sakamoto, Yae Kanai, Atsushi Kaneda, Tetsuo Noda, Hiroyuki Aburatani   +24 more
openalex   +1 more source

Modeling Read Counts for CNV Detection in Exome Sequencing Data [PDF]

, 2011
Michael I. Love, Alena Myšičková, Ruping Sun, Vera M. Kalscheuer, Martin Vingron, Stefan A. Haas   +5 more
openalex   +1 more source

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

, 2011
Zhenlin Zhang, Weibo Xia, Jian He, Zeng Zhang, Yaohua Ke, Hua Yue, Chun Wang, Hao Zhang, Jie‐Mei Gu, Weiwei Hu, Wen‐Zhen Fu, Yun-qiu Hu, Miao Li, Yujuan Liu   +13 more
openalex   +1 more source

Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics [PDF]

, 2012
Yongguo Yu, Bai‐Lin Wu, Jie Wu, Yiping Shen   +3 more
openalex   +1 more source

Apert's syndrome: Study by whole exome sequencing

Genes and Diseases, 2018
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of ...
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar   +6 more
doaj  

Whole-exome sequencing of a pedigree segregating asthma [PDF]

, 2012
Andrew T. DeWan, Kathryn B. Egan, Karen Hellenbrand, Keli Sorrentino, Nicole Pizzoferrato, Kyle M. Walsh, Michael B. Bracken   +6 more
openalex   +1 more source

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism [PDF]

, 2012
Sabine A. Fuchs, Magdaléna Harakaľová, Gijs van Haaften, Peter M. van Hasselt, Edwin Cuppen, Roderick H.J. Houwen   +5 more
openalex   +1 more source

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability [PDF]

, 2012
Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Thessa Kroes, Anneke T. Vulto-van Silfhout, David A. Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B.A. de Vries, Han G. Brunner, Joris A. Veltman, Lisenka E.L.M. Vissers   +16 more
openalex   +1 more source

Clinical Exome Sequencing in Pediatric Patients. [PDF]

Cureus
Görükmez O, Görükmez Ö, Topak A, Arsoy HA.   +3 more
europepmc   +1 more source