Marta Bertoli

Marta Bertoli

Newcastle University - Newcastle upon Tyne / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1371042
University of Newcastle upon Tyne
person_outline Marta Bertoli's MOST POPULAR ARTICLES
1-) A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disordersI Simeoni, JC Stephens, F Hu, SVV Deevi, K Megy, TK Bariana, ...Blood, blood-2015-12-688267, 20161682016
2-) Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathiesK Belaya, PM Rodríguez Cruz, WW Liu, S Maxwell, S McGowan, ...Brain 138 (9), 2493-2504, 20151122015
3-) Needs and challenges of daily life for people with Down syndrome residing in the city of Rome, ItalyM Bertoli, G Biasini, MT Calignano, G Celani, G De Grossi, MC Digilio, ...Journal of Intellectual Disability Research 55 (8), 801-820, 20111012011
4-) Identification of CANT1 mutations in Desbuquois dysplasiaC Huber, B Oulès, M Bertoli, M Chami, M Fradin, Y Alanay, LI Al-Gazali, ...The American Journal of Human Genetics 85 (5), 706-710, 20091112009
5-) Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-years periodM Sframeli, A Sarkozy, M Bertoli, G Astrea, J Hudson, M Scoto, R Mein, ...Neuromuscular Disorders, 20171102017