M.C. Carrascosa-Romero

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

Ana Fernández‐Marmiesse, M.C. Carrascosa-Romero, Blanca Alfaro Ponce et al. · Neuromuscular Disorders · 2016 · 51 citations

Life Sciences, Genetics, Molecular Genetics +7

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20

J.M. Pardal-Fernández, M.C. Carrascosa-Romero, Sara Álvarez et al. · Neuromuscular Disorders · 2018 · 22 citations

Life Sciences, Genetics, Molecular Genetics +12

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

Beatriz G. Giráldez, Rosa Guerrero, Laura Ortega-Moreno et al. · Neuromuscular Disorders · 2014 · 17 citations

Life Sciences, Genetics, Molecular Genetics +17

Congenital Gingival Hyperplasia in a Neonate with Foetal Valproate Syndrome

Maria Rodríguez‐Vázquez, M.C. Carrascosa-Romero, J.M. Pardal-Fernández et al. · Neuropediatrics · 2007 · 14 citations

Medicine, Pediatrics, Child Oral Health +8