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Pascual-Pascual Si

Hospital Universitario La Paz

83

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575

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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

2017 Molecular Diagnosis & Therapy
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Mutations in the MORC2 gene cause axonal Charcot–Marie–Tooth disease

2016 Brain
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H emangiomas y malformaciones v as c ulares cutáneas y patología as o ciada. Un nuevo s í ndrome neurocutáneo

2016
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Guía para el seguimiento de la enfermedad de Pompe de inicio tardío

2015 Revista De Neurologia
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Neurofibromas plexiformes voluminosos de cuello en la neurofibromatosis tipo 1

2014 Revista De Neurologia
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Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.

2013 The Cerebellum
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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

2013 PLOS ONE
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Esquisencefalia. Estudio de 16 pacientes

2012 Neurologia
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Citomegalia congénita y malformaciones corticales y subcorticales

2012 Neurologia
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Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

2012 Neuromuscular Disorders
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