Publications
Export 3 results:
Filters: Keyword is Sequence Analysis, DNA and Author is Niu, Zhiyv [Clear All Filters]
POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
.