Export 22 results:Autore [ Titolo] Tipo Anno
Filtri: Autore è Vozzi, Diego [Clear All Filters]
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Mol Med Rep 2015;12(4):6128-32..
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36..
Rare coding variants and X-linked loci associated with age at menarche. Nat Commun 2015;6:7756..
Rare and low-frequency coding variants alter human adult height. Nature 2017;542(7640):186-190..
Putative modifier genes in mevalonate kinase deficiency. Mol Med Rep 2016;13(4):3181-9..
PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. Sci Rep 2015;5:18568..
The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45..
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9..
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..
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..