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Items: 2

1.

Germline EGFR T790M mutation found in multiple members of a familial cohort.

Yu HA, Arcila ME, Harlan Fleischut M, Stadler Z, Ladanyi M, Berger MF, Robson M, Riely GJ.

J Thorac Oncol. 2014 Apr;9(4):554-8. doi: 10.1097/JTO.0000000000000052.

2.

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH.

PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29.

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