New technologies in newborn screening.

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

Life Sciences, Genetics, Molecular Genetics +10

Therapy of CF-Patients with Amitriptyline and Placebo - a Randomised, Double-Blind, Placebo-Controlled Phase IIb Multicenter, Cohort-Study

Lutz Nährlich, Jochen G. Mainz, Constantin Adams et al. · Cellular Physiology and Biochemistry · 2013 · 2.5K citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Alan H. Beggs, Mary B. Moyer, S. Scherpf et al. · PubMed · 1989 · 961 citations

Medicine, Genetics, Molecular Genetics +10

Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

Eduardo Bonilla, Craig E. Samitt, Armand F. Miranda et al. · Cell · 1988 · 625 citations

Medicine, Neurology, Pathology +12

DRIED-BLOOD SPOT SCREENING FOR CYSTIC FIBROSIS IN THE NEWBORN

JeanetteR. Crossle, Robert B. Elliot, PatriciaA. Smith · The Lancet · 1979 · 436 citations

Medicine, Child Health, Pediatrics +6