Publications
Export 3 results:
Filters: Keyword is Mutation and Author is Khayat, Michael M [Clear All Filters]
.
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
.