Hannah Blau

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis and<i>CFTR</i>Stop Mutations

Michael Wilschanski, Yaacov Yahav, Yasmin Yaacov et al. · New England Journal of Medicine · 2003 · 487 citations · Full text

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

Eitan Kerem, Samit Hirawat, S. Armoni et al. · The Lancet · 2008 · 387 citations

Ptc124 Treatment, Molecular Diagnostic Techniques, Mendelian Disorder +4

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges et al. · Nature Genetics · 2012 · 279 citations

Pathology, Degenerative Disease, Neuropathology +3

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Niki T. Loges, Heike Olbrich, Lale Fenske et al. · The American Journal of Human Genetics · 2008 · 257 citations · Full text

Outer Dynein Arm, Mendelian Disorder, Genetic Disorder +3

A Pilot Study of the Effect of Gentamicin on Nasal Potential Difference Measurements in Cystic Fibrosis Patients Carrying Stop Mutations

Michael Wilschanski, CHAGIT FAMINI, Hannah Blau et al. · American Journal of Respiratory and Critical Care Medicine · 2000 · 206 citations