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Awareness, Attitudes, and Willingness of Young Adults in Mainland China Regarding Advance Care Planning: A Cross-Sectional Study.
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- Malaysian Journal of Nursing (MJN), 2022, v. 14, n. 1, p. 10, doi. 10.31674/mjn.2022.v14i01.002
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New Insight into the Genotype-Phenotype Correlation of PRPH2 -Related Diseases Based on a Large Chinese Cohort and Literature Review.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6728, doi. 10.3390/ijms24076728
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Clinical and Genetic Features of NR2E3 -Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
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- Genes, 2023, v. 14, n. 8, p. 1525, doi. 10.3390/genes14081525
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FDXR -Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
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- Genes, 2023, v. 14, n. 4, p. 952, doi. 10.3390/genes14040952
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Landscape of pathogenic variants in six pre‐mRNA processing factor genes for retinitis pigmentosa based on large in‐house data sets and database comparisons.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1412, doi. 10.1111/aos.15104
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RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
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- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 2, p. e181, doi. 10.1111/aos.14181
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Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-04886-5
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Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.
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- Molecular Vision, 2021, v. 27, p. 309
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Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
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- Molecular Vision, 2021, v. 27, p. 50
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Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
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- Molecular Vision, 2020, v. 26, p. 588
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Spectrum, frequency, and genotype--phenotype of mutations in SPATA7.
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- Molecular Vision, 2019, v. 25, p. 821
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Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
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- Molecular Vision, 2016, v. 22, p. 1
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Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.600210
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- Article
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish.
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- Clinical Genetics, 2022, v. 102, n. 5, p. 424, doi. 10.1111/cge.14213
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- Article
Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 10, p. 2929, doi. 10.1007/s00417-021-05196-y
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Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the <i>NHS</i> Gene.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100455
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Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065546
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Truncation mutations in MYRF underlie primary angle closure glaucoma.
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- Human Genetics, 2023, v. 142, n. 1, p. 103, doi. 10.1007/s00439-022-02487-0
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Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families.
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- Human Genetics, 2020, v. 139, n. 8, p. 1057, doi. 10.1007/s00439-020-02156-0
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- Article
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3.
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- Human Genetics, 2019, v. 138, n. 10, p. 1077, doi. 10.1007/s00439-019-02039-z
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A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome.
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- Ophthalmic & Physiological Optics, 2020, v. 40, n. 3, p. 281, doi. 10.1111/opo.12682
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Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?
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- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 358, doi. 10.1001/jamaophthalmol.2014.4915
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Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49376-w
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Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1239886
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CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
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- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1959, doi. 10.1093/hmg/ddz029
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Correspondence to Rossetti et al.'s review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2315, doi. 10.1002/ajmg.a.61326
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Pathogenicity evaluation and the genotype–phenotype analysis of OPA1 variants.
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- Molecular Genetics & Genomics, 2021, v. 296, n. 4, p. 845, doi. 10.1007/s00438-021-01783-0
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Clinical manifestation and genetic analysis in Chinese early onset X‐linked retinoschisis.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1421
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- Article