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Autore [ Titolo] Tipo Anno Filtri: First Letter Of Title è N and Autore is Morgan, Anna [Clear All Filters]
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9.
. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension 2017;
. 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.
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