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MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder. Hamostaseologie 2019;39(1):87-94.
. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet 2019;27(1):70-79.
. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. Eur J Neurol 2019;26(1):80-86.
. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. Eur J Neurol 2019;26(1):80-86.
. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. Eur J Neurol 2019;26(1):80-86.
. Activation of hepatic stem cells compartment during hepatocarcinogenesis in a HBsAg HBV-transgenic mouse model. Sci Rep 2018;8(1):13168.
. Activation of hepatic stem cells compartment during hepatocarcinogenesis in a HBsAg HBV-transgenic mouse model. Sci Rep 2018;8(1):13168.
. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. Adolescent with intermittent haematuria. Arch Dis Child Educ Pract Ed 2018;
. Are aortic coarctation and rheumatoid arthritis different models of aortic stiffness? Data from an echocardiographic study. Cardiovasc Ultrasound 2018;16(1):9.
. Are aortic coarctation and rheumatoid arthritis different models of aortic stiffness? Data from an echocardiographic study. Cardiovasc Ultrasound 2018;16(1):9.
. Bariatric surgery drives major rearrangements of the intestinal microbiota including the biofilm composition. Front Biosci (Elite Ed) 2018;10:495-505.
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