Export 6 results:
Autore Titolo [ Tipo] Anno Filtri: First Letter Of Title è N and Autore is Faletra, Flavio [Clear All Filters]
A neonate with a 'milky' blood. What can it be?. Arch Dis Child Fetal Neonatal Ed 2014;99(6):F514.
. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80.
. 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.
. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
. . .