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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.
. . ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. Acute small bowel obstruction in a child with a strict raw vegan diet. Arch Dis Child 2018;
. Adenomyomatosis of the Gallbladder as a Cause of Recurrent Abdominal Pain. J Pediatr 2018;202:328-328.e1.
. Afebrile seizures in infants: Never forget magnesium!. J Paediatr Child Health 2018;54(4):446-448.
. Alcohol use and burden for 195 countries and territories, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet 2018;392(10152):1015-1035.
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.
. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?. Eur J Med Genet 2018;61(10):581-584.
. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?. Eur J Med Genet 2018;61(10):581-584.
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