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MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.
. A neonate with a 'milky' blood. What can it be?. Arch Dis Child Fetal Neonatal Ed 2014;99(6):F514.
. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
. No evidence of Polyomavirus and EBV infections in Italian patients with mixed cryoglobulinemia infected chronically with HCV. J Med Virol 2014;86(4):666-71.
. A non-complement-fixing antibody to β2 glycoprotein I as a novel therapy for antiphospholipid syndrome. Blood 2014;123(22):3478-87.
. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9.
. The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45.
. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
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