Patrizia Accorsi

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 219 citations

Immunotherapy with cytokine induced killer cells in solid and hematopoietic tumours: a pilot clinical trial

P Olioso, Raffaella Giancola, Maria Di Riti et al. · Hematological Oncology · 2009 · 138 citations

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 138 citations · Full text

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti et al. · The American Journal of Human Genetics · 2013 · 132 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +8

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text