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 · 74 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Antonio Morales‐Piga, Javier Bachiller‐Corral, M J Trujillo-Tiebas et al. · Bone · 2012 · 62 citations

Medicine, Genetics, Pathology +9

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 · 61 citations

Medicine, Genetics, Molecular Genetics +16

<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 · 52 citations

Medicine, Genetics, Ophthalmology +17

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

Daniel Natera‐de Benito, M Bestué, Juan J. Vílchez et al. · Neuromuscular Disorders · 2015 · 40 citations

Life Sciences, Genetics, Molecular Genetics +11