Results 121 to 130 of about 215,208 (174)

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing [PDF]

, 2012
Jaeseung Kim, Ni‐Chung Lee, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Somayyeh Fahiminiya, Jacek Majewski, David Watkins, David S. Rosenblatt   +7 more
openalex   +1 more source

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. [PDF]

Int J Mol Sci
Ozcinar B, Ocak Z, Billur D, Ertugrul B, Timirci-Kahraman O.   +4 more
europepmc   +1 more source

Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis [PDF]

, 2012
Xiaowen Wang, Zhimiao Lin, Lujuan Gao, Aiping Wang, Zhe Wan, Wei Chen, Yong Yang, Ruoyu Li   +7 more
openalex   +1 more source

Exome sequencing of UK birth cohorts. [PDF]

Wellcome Open Res
Koko M, Fabian L, Popov I, Eberhardt RY, Zakharov G, Huang QQ, Wade EE, Azad R, Danecek P, Ho K, Hough A, Huang W, Lindsay SJ, Malawsky DS, Bonfanti D, Mason D, Plowman D, Quail MA, Ring SM, Shireby G, Widaa S, Fitzsimons E, Iyer V, Bann D, Timpson NJ, Wright J, Hurles ME, Martin HC.   +27 more
europepmc   +1 more source

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor [PDF]

, 2012
Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau   +22 more
openalex   +1 more source

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing. [PDF]

Front Psychiatry
Blázquez A, Rodriguez-Revenga L, Alvarez-Mora MI, Calvo R.   +3 more
europepmc   +1 more source

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma. [PDF]

Sci Rep
Sitthirak S, Wangwiwatsin A, Jusakul A, Namwat N, Klanrit P, Dokduang H, Sa-Ngiamwibool P, Titapun A, Jareanrat A, Thanasukarn V, Khuntikeo N, Teh BT, Boulter L, Murakami Y, Loilome W.   +14 more
europepmc   +1 more source

Searching for BRCA3 by exome sequencing

Hereditary Cancer in Clinical Practice, 2012
Makunin I, Stark M, Gartside M, Chenevix-Trench G   +3 more
doaj   +1 more source

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing [PDF]

, 2012
Pengyuan Liu, Carl Morrison, Liang Wang, Donghai Xiong, Peter T. Vedell, Peng Cui, Xing Hua, Feng Ding, Yan Lü, Michael A. James, John D. Ebben, Haiming Xu, Alex A. Adjei, Karen Head, Jaime Wendt Andrae, Michael Tschannen, Howard J. Jacob, Jing Pan, Qi Zhang, Françoise Van den Bergh, Haijie Xiao, Ken C. Lo, Jigar Patel, Todd Richmond, Mary-Anne Watt, Thomas Albert, Rebecca R. Selzer, Marshall W. Anderson, Jiang Wang, Yian Wang, Sandra L. Starnes, Ping Yang, Ming You   +32 more
openalex   +1 more source

Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas. [PDF]

Orphanet J Rare Dis
Puttonen M, Almusa H, Böhling T, Koljonen V, Sihto H.   +4 more
europepmc   +1 more source