Found: 25
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Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.
- Published in:
- BMC Ophthalmology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12886-022-02359-1
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- Article
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2095
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- Article
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
- Published in:
- Scientific Reports, 2016, p. 33742, doi. 10.1038/srep33742
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- Article
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy.
- Published in:
- Scientific Reports, 2016, p. 24357, doi. 10.1038/srep24357
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- Article
A Multi-Center, Cross-Sectional Study on the Burden of Infectious Keratitis in China.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113843
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- Article
Targeted Next-Generation Sequencing Reveals Novel <i>USH2A</i> Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105439
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- Article
Novel and Recurrent <i>MYO7A</i> Mutations in Usher Syndrome Type 1 and Type 2.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097808
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- Article
Molecular Genetic Testing in Clinical Diagnostic Assessments That Demonstrate Correlations in Patients With Autosomal Recessive Inherited Retinal Dystrophy.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 4, p. 427, doi. 10.1001/jamaophthalmol.2014.5831
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- Article
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
- Published in:
- 2018
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- Publication type:
- journal article
De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01904-9
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- Article
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01665-x
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- Publication type:
- Article
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01516-9
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- Publication type:
- Article
Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.76157
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- Article
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 444, doi. 10.1093/hmg/ddz311
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- Publication type:
- Article
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2926, doi. 10.1093/hmg/ddu005
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- Publication type:
- Article
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.
- Published in:
- Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0534-9
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- Publication type:
- Article
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia.
- Published in:
- 2015
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- Publication type:
- journal article
Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2015, p. 8927, doi. 10.1038/srep08927
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- Publication type:
- Article
Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 22, p. 3602, doi. 10.3390/cells11223602
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- Article
Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1276227
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- Publication type:
- Article
Four different gene-related cone--rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1157156
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- Publication type:
- Article
Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1107347
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- Publication type:
- Article
Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1417584
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- Article
MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1407361
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- Publication type:
- Article
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04368-5
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- Publication type:
- Article