Henriett Pikó

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Veronika Boczonadi, Juliane Müller, Angela Pyle et al. · Nature Communications · 2014 · 154 citations · Full text

Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL

Lina Hamadeh, Amir Enshaei, Claire Schwab et al. · Blood Advances · 2019 · 64 citations · Full text

Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families – Detection of carrier status in symptomatic and asymptomatic female relatives

Henriett Pikó, Viktor Vancsó, Bálint Nagy et al. · Neuromuscular Disorders · 2008 · 30 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +10

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

Juliane S. Müller, Henriett Pikó, Benedikt Schoser et al. · Neuromuscular Disorders · 2006 · 26 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

Artúr Beke, Henriett Pikó, Irén Haltrich et al. · Molecular Cytogenetics · 2013 · 24 citations · Full text