M J Trujillo-Tiebas

Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Jana Zernant et al. · Ophthalmology · 2013 · 70 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

The first <i>COL7A1</i> mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation

M.J. Escámez, Marta García, Natividad Cuadrado‐Corrales et al. · British Journal of Dermatology · 2010 · 60 citations

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects

Antonio Morales‐Piga, Javier Bachiller‐Corral, M J Trujillo-Tiebas et al. · Bone · 2012 · 59 citations

Fibrosis, Pathology, Osteogenesis +5

<i>CERKL</i>Mutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa

Almudena Ávila‐Fernández, Rosa Riveiro-Álvarez, Elena Vallespín et al. · Investigative Ophthalmology & Visual Science · 2008 · 50 citations

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

Rosa Riveiro-Álvarez, M J Trujillo-Tiebas, Ascensión Gimenez-Pardo et al. · Investigative Ophthalmology & Visual Science · 2009 · 39 citations · Full text