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Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 948, doi. 10.1002/ajmg.a.62582
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- Article
Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.
- Published in:
- Scientific Reports, 2017, p. 33713, doi. 10.1038/srep33713
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- Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
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- Article
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 2, p. 645, doi. 10.1007/s00417-021-05376-w
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- Article