Publications by authors named "Elena Gómez-Rosas"

3Publications

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Pediatr Res 2015 Jul 18;78(1):97-102. Epub 2015 Mar 18.

1] Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain [2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2015.56DOI Listing
July 2015