Publicacións nas que colabora con Lourdes Palacios Martin (4)

2020

  1. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

    Genomics, Vol. 112, Núm. 2, pp. 1245-1256

2017

  1. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192

2015

  1. Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102

    Frontiers in Genetics

  2. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics, Vol. 6, Núm. MAR