Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).

by Juan Rodriguez-Paris, Marta L Tamayo, Nancy Gelvez, Iris Schrijver
Published 2011-01-01

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