Publications

Export 53 results:
Author Title [ Year(Asc)]
Filters: Keyword is Heterozygote  [Clear All Filters]
2014
Makaryan, V. et al. TCIRG1-associated congenital neutropenia. Hum Mutat 35, 824-7 (2014).
2013
Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).
Cheung, Y. Him et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 92, 996-1000 (2013).

Pages