Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu

by Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A. Gordhandas, Lynn Pique, Iris Schrijver
Published 2016-10-01

Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

by Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver
Published 2010-07-01