Member info
Prof Joaquim Murta
Representative
Portugal
Working Group(s): Pediatric Ophthalmology Rare Diseases (WG3), Anterior Segment Rare Eye Diseases (WG4), Research (TWG8), CPMS & Digital Medecine (TWG10)
Team
Dr João Pedro Marques
Portugal
National Integration (TWG9), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Jorge Henriques
Portugal
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), National Integration (TWG9), Research (TWG8)
Dr Raimundo Miguel
Portugal
Anterior Segment Rare Eye Diseases (WG4), Neuro-Ophthalmology Rare Diseases (WG2), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Catarina Paiva
Portugal
Low Vision Daily Life and Patients Groups (TWG5), Pediatric Ophthalmology Rare Diseases (WG3)
Joao Quadrado Gil
Portugal
Anterior Segment Rare Eye Diseases (WG4), Registries & Epidemiology (TWG7), Research (TWG8)
Pr Rufino Silva
Portugal
Genetic Diagnostics (TWG6), National Integration (TWG9), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
HCP Center
CHUC's mission is to provide high quality and differentiated health care in a context of training, teaching, research, scientific knowledge and...
contact
Centro Hospitalar e Universitário de Coimbra – CHUC, Coimbra, Portugal
Praceta Professor Mota Pinto
3004-561 Coimbra
Portugal
Scientific publications
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing...