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. Stem cells in severe infantile spinal muscular atrophy (SMA1). Neuromuscul Disord 2012;22(11):1032-4.
. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
. Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immunol 2010;125(4):943-946.e1.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Time to optimise and enforce training in interpretation of intrapartum cardiotocograph. BJOG 2016;123(6):866-9.
. TNF-α SNP rs1800629 and risk of relapse in childhood acute lymphoblastic leukemia: relation to immunophenotype. Pharmacogenomics 2014;15(5):619-27.
. Towards measles elimination in Italy: Virological surveillance and genotypes trend (2013-2015). Virus Res 2017;236:24-29.