Berkley R. Powell

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel · The Journal of Pediatrics · 1982 · 446 citations

Pathogenesis, Gastroenterology, Pathology +6

A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

Cecilia Rojas, Jianzhou Wang, Lisa Schwartz et al. · Nature · 1991 · 318 citations

Muscle Function, Met-to-val Mutation, Hyperkalaemic Periodic Paralysis +19

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

Richard I. Kelley, John P. Cheatham, Bernard J. Clark et al. · The Journal of Pediatrics · 1991 · 273 citations · Full text

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

De‐Ann M. Pillers, Dennis E. Bulman, Richard G. Weleber et al. · Nature Genetics · 1993 · 161 citations

Ganglion Cell, Retina, Human Retina +11