Publications
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Filters: Keyword is Child, Preschool and Author is Madan-Khetarpal, Suneeta [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.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
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