Marta Bértoli

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu et al. · Blood · 2016 · 182 citations · Full text

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Maria Sframeli, Anna Sárközy, Marta Bértoli et al. · Neuromuscular Disorders · 2017 · 124 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates et al. · Genetics in Medicine · 2020 · 105 citations · Full text

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber, Bénédicte Oulès, Marta Bértoli et al. · The American Journal of Human Genetics · 2009 · 103 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, Italy

Marta Bértoli, G. Biasini, M. T. Calignano et al. · Journal of Intellectual Disability Research · 2011 · 76 citations · Full text