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Haemophilia : the Official Journal of the World Federation of Hemophilia|March 11, 2008
Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriersA Bustamante-Aragones, M Rodriguez de Alba, C Gonzalez-Gonzalez, et al.
The British Journal of Ophthalmology|November 26, 2008
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variantsJ Aguirre-Lamban, R Riveiro-Alvarez, S Maia-Lopes, et al.
Bone|July 17, 2012
Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspectsA Morales-Piga, J Bachiller-Corral, M J Trujillo-Tiebas, et al.
Neurologia (Barcelona, Spain)|March 13, 2016
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 casesI Vieitez, P Gallano, L González-Quereda, et al.
Neuromuscular Disorders : NMD|January 20, 2016
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutationsD Natera-de Benito, M Bestué, J J Vilchez, et al.
Scientific Reports|November 10, 2022
Five years' experience of the clinical exome sequencing in a Spanish single centerA Arteche-López, A Ávila-Fernández, R Riveiro Álvarez, et al.
Scientific Reports|March 12, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomesA Arteche-López, A Ávila-Fernández, R Romero, et al.
Human Genetics|August 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseasesI Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, et al.
The British Journal of Dermatology|February 27, 2010
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutationM J Escámez, M García, N Cuadrado-Corrales, et al.
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