Found: 14
Select item for more details and to access through your institution.
Unilateral retinocytoma associated with a variant in the RB1 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1156
- By:
- Publication type:
- Article
Response to "Letter to the editor" regarding "Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease".
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 119, doi. 10.1002/ajmg.a.63410
- By:
- Publication type:
- Article
Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2819, doi. 10.1002/ajmg.a.63361
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
- Published in:
- Molecular Vision, 2021, v. 27, p. 221
- By:
- Publication type:
- Article
Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 4, p. 472, doi. 10.1111/cge.14278
- By:
- Publication type:
- Article
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4157, doi. 10.1093/hmg/ddy281
- By:
- Publication type:
- Article
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1479, doi. 10.1093/hmg/ddw022
- By:
- Publication type:
- Article
Prevalence and risk factors of refractive errors among older Chinese in Hebei, China: a cross‐sectional study from the China National Health Survey.
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 3, p. e394, doi. 10.1111/aos.14268
- By:
- Publication type:
- Article
Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 1, p. 337, doi. 10.1007/s00417-023-06178-y
- By:
- Publication type:
- Article
Genetic polymorphisms of apolipoprotein E in nonarteritic anterior ischemic optic neuropathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 8, p. 2717, doi. 10.1007/s00417-022-05616-7
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Gender differences in the burden of multiple sclerosis in China from 1990 to 2019 and its 25‐year projection: An analysis of the Global Burden of Diseases Study.
- Published in:
- Health Science Reports, 2023, v. 6, n. 12, p. 1, doi. 10.1002/hsr2.1738
- By:
- Publication type:
- Article