Showing results (91-100 of 108) with videos related to

Sort By:
Pageof 11
Mitochondrion|January 5, 2021
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophyZhimei Liu, Masaru Shimura, Li Zhang, et al.
The Ocular Surface|August 16, 2025
Exploration of imaging and molecular biomarkers for differentiation of neuropathic corneal pain from dry eye syndromeJun Cheng, Chang Liu, Mingyi Yu, et al.
Endocrine Connections|October 24, 2018
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasiaQiuli Liu, Lin-Ang Wang, Jian Su, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patientShuo Tang, Jieyu You, Li Liu, et al.
Genes|December 1, 2020
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal KaryotypesQingwei Qi, Yulin Jiang, Xiya Zhou, et al.
Chemosphere|March 1, 2019
Exposure and risk assessment of volatile organic compounds and airborne phthalates in Singapore's Child Care CentersShenglan Jia, Gayatri Sankaran, Bei Wang, et al.
The Ocular Surface|June 1, 2025
Fenofibrate ameliorates ocular surface inflammation in diabetic keratopathyHassan Mansoor, Isabelle Xin Yu Lee, Chang Liu, et al.
The Journal of Molecular Diagnostics : JMD|September 1, 2015
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2Jianli Li, Hongzheng Dai, Yanming Feng, et al.
Frontiers in Genetics|September 7, 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic DisordersXuejun Ouyang, Yu Zhang, Lijuan Zhang, et al.
Taiwanese Journal of Obstetrics & Gynecology|May 18, 2020
L1CAM mutations in three fetuses diagnosed by medical exome sequencingYing-Ting Li, Jing-Si Chen, Wei Jian, et al.
Pageof 11