Export 6 results:
Autore Titolo [ Tipo] Anno Filtri: Autore è Cappellani, Stefania [Clear All Filters]
Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature. Am J Med Genet A 2017;
. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet 2015;8:18.
. 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.
. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome Biol 2018;19(1):87.
. Directional dominance on stature and cognition in diverse human populations. Nature 2015;523(7561):459-62.
. .