J. Thompson

Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

M. Dubé, D. Bowsher, E. Boltshauser, 2007, Clinical genetics.

Favorably skewed X‐inactivation accounts for neurological sparing in female carriers of Menkes disease

V. Desai, A. Donsante, S. Kaler, 2011, Clinical genetics.

A homozygous HAMP mutation in a multiply consanguineous family with pseudo‐dominant juvenile hemochromatosis

P. Gow, M. Hayden, C. Radomski, 2004, Clinical genetics.