18 results on '"Yang, Yanling"'
Search Results
2. Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
3. Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations
4. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome
5. Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
6. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome
7. FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies
8. Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome
9. Novel biallelic mutations in TMEM126Bcause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
10. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
11. Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
12. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome
13. Mutations in TOMM70lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay
14. A Novel NDUFS3mutation in a Chinese patient with severe Leigh syndrome
15. Novel mutation of ND4 geneidentified by targeted next-generation sequencing in patient with Leigh syndrome
16. FKRPmutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies
17. Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
18. Correction: A novel NDUFS3mutation in a Chinese patient with severe Leigh syndrome
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