16 results on '"Yuan, Zhisheng"'
Search Results
2. CEP78 is mutated in a distinct type of Usher syndrome
3. Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome
4. A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy
5. Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome.
6. The Cloud Terminal Online Monitoring System of UPS Battery Performance based on MSP430 MCU
7. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novelOPA1pathogenic variants
8. A novel small deletion in the NHS gene associated with Nance-Horan syndrome
9. Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance
10. The phenotypic variability of HK1-associated retinal dystrophy
11. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
12. Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
13. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
14. CEP78is mutated in a distinct type of Usher syndrome
15. The New Intelligent Control Strategy for Inverted Plasma Cutting Power
16. CEP78is mutated in a distinct type of Usher syndrome
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