Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference35 articles.
1. Mitochondrial genetic drift after nuclear transfer in oocytes;Yamada;Int J Mol Sci,2020
2. Long-term developmental trends of pediatric mitochondrial diseases: the five stages of developmental decline;Eom;Front Neurol,2017
3. Radboud Centre for Mitochondrial Medicine Pediatric MRI score;Wong;Mitochondrion,2017
4. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience;Wang;Genet Med,2012
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015
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