Results 101 to 110 of about 215,208 (174)

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

, 2011
Jian Wu, Yuchen Jiao, Marco Dal Molin, Anirban Maitra, Roeland F. de Wilde, Laura D. Wood, James R. Eshleman, Michael Goggins, Christopher L. Wolfgang, Marcia I. Canto, Richard D. Schulick, Barish H. Edil, Michael A. Choti, Volkan Adsay, David S. Klimstra, G. Johan A. Offerhaus, Alison P. Klein, Levy Kopelovich, Hannah Carter, Rachel Karchin, Peter J. Allen, C. Max Schmidt, Yoshiki Naito, Luis A. Díaz, Kenneth W. Kinzler, Nickolas Papadopoulos, Ralph H. Hruban, Bert Vogelstein   +27 more
openalex   +1 more source

Exome sequencing generates high quality data in non-target regions [PDF]

, 2012
Yan Guo, Jirong Long, Jing He, Chung-I Li, Qiuyin Cai, Xiao‐Ou Shu, Wei Zheng, Chun Li   +7 more
openalex   +1 more source

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

, 2011
Pia Østergaard, Michael A. Simpson, Glen Brice, Sahar Mansour, Fiona Connell, Alexandros Onoufriadis, A. H. Child, Jun‐Eul Hwang, Kamini Kalidas, Peter Mortimer, Richard C. Trembath, Steve Jeffery   +11 more
openalex   +2 more sources

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes [PDF]

, 2012
Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya, Arif O. Khan, Mohammed Al‐Owain, Jawahir Al-Zahrani, Lama AlAbdi, Mais Hashem, Salwa Al-Tarimi, Mohammed-Adeeb Sebai, Ahmed Shamia, Mohamed D. Ray-Zack, Malik Nassan, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Saad Waheeb, Abdullah S. Al-Kharashi, Emad B. Abboud, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya   +20 more
openalex   +1 more source

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family

, 2011
Xiao-Ping Qi, Juming Ma, Zhenfang Du, Rongbiao Ying, Jun Fei, Hang-Yang Jin, Jianshan Han, Jinquan Wang, Xiaoling Chen, Chunyue Chen, Wenting Liu, Jiajun Lu, Jianguo Zhang, Xianning Zhang   +13 more
openalex   +2 more sources

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia [PDF]

, 2012
Marta Futema, Vincent Plagnol, Ros Whittall, H. A. W. Neil, Steve E. Humphries   +4 more
openalex   +1 more source

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis. [PDF]

Orphanet J Rare Dis
Zhou W, Li Y, Zheng H, He M, Zhang M, Chen Q, Situ C, Wang Y, Zhang T, Chen K, Dai J, Meng S, Liu X, Wu A, Liu Y, Xu KF, Tian X, Zhang X.   +17 more
europepmc   +1 more source

Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma [PDF]

, 2012
Bin Zhou, Astrid Irwanto, Yun-Miao Guo, Jin‐Xin Bei, Qiao Wu, Ge Chen, Tai-Ping Zhang, Jin-Jv Lei, Qi-Sheng Feng, Li-Zhen Chen, Jianjun Liu, Yu-Pei Zhao   +11 more
openalex   +1 more source

Zinner syndrome: report of a case and whole exome sequencing. [PDF]

Basic Clin Androl
He J, Wei C, Huang Y, Xu F, Wang M, Chen Z.   +5 more
europepmc   +1 more source

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM ₁ -gangliosidosis [PDF]

, 2012
Tyler Mark Pierson, David A. Adams, Thomas C. Markello, Gretchen Golas, Sandra Yang, Murat Sincan, Dimitre R. Simeonov, Karin Fuentes Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, Jamie K. Teer, James C. Mullikin, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft   +15 more
openalex   +1 more source