Encarna Guillén‐Navarro

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck et al. · Orphanet Journal of Rare Diseases · 2011 · 231 citations · Full text

Life Sciences, Neurology, Pathology +17

[Monogenic causes of X-linked mental retardation].

Encarna Guillén‐Navarro, Guillermo Glover-López · PubMed · 2006 · 229 citations

Life Sciences, Genetics, Molecular Genetics +11

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Asif Ali, P. T. Christie, I. V. Grigorieva et al. · Human Molecular Genetics · 2006 · 152 citations

Life Sciences, Genetics, Molecular Genetics +13