Results 121 to 130 of about 1,383 (138)
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform.
Zhouxian, Bai +3 more
openaire +1 more source
To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform.
Zhouxian, Bai +3 more
openaire +1 more source
SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase
Cell Reports, 2021Wenwen Huo, Ralph Isberg
exaly
X-inactivation analysis of embryonic lethality in Ocrl wt/−;Inpp5b −/− mice
Mammalian Genome, 2010Nussbaum Robert L
exaly
A role for OCRL in glomerular function and disease
Pediatric Nephrology, 2019Rachel Lennon +2 more
exaly