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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0329-3
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- Publication type:
- Article
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0329-3
- By:
- Publication type:
- Article
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
- Published in:
- 2015
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- Publication type:
- journal article
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1316
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- Publication type:
- Article
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
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- Publication type:
- Article
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 948, doi. 10.1002/ajmg.a.62582
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- Publication type:
- Article
A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 214, doi. 10.1002/ajmg.a.38501
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- Publication type:
- Article
Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 225, doi. 10.1007/s10633-023-09953-8
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- Publication type:
- Article
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
- Published in:
- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 17, doi. 10.1007/s10633-022-09910-x
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- Publication type:
- Article
Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.
- Published in:
- Documenta Ophthalmologica, 2013, v. 126, n. 3, p. 233, doi. 10.1007/s10633-013-9383-0
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- Publication type:
- Article
Delayed visual recovery in pregnancy-associated thrombotic thrombocytopenic purpura with bilateral serous retinal detachment.
- Published in:
- Documenta Ophthalmologica, 2013, v. 126, n. 2, p. 163, doi. 10.1007/s10633-012-9365-7
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- Publication type:
- Article
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
- Published in:
- Documenta Ophthalmologica, 2011, v. 123, n. 1, p. 21, doi. 10.1007/s10633-011-9278-x
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- 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
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- Publication type:
- Article
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
- Published in:
- Scientific Reports, 2016, p. 21384, doi. 10.1038/srep21384
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- Publication type:
- Article
Bacteria‐Targeting Photodynamic Nanoassemblies for Efficient Treatment of Multidrug‐Resistant Biofilm Infected Keratitis.
- Published in:
- Advanced Functional Materials, 2022, v. 32, n. 14, p. 1, doi. 10.1002/adfm.202111066
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- Publication type:
- Article
Mutations in human IFT140 cause non-syndromic retinal degeneration.
- Published in:
- Human Genetics, 2015, v. 134, n. 10, p. 1069, doi. 10.1007/s00439-015-1586-x
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- Publication type:
- Article
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0725-3
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- Publication type:
- Article
A Review of Machine Learning Algorithms for Retinal Cyst Segmentation on Optical Coherence Tomography.
- Published in:
- Sensors (14248220), 2023, v. 23, n. 6, p. 3144, doi. 10.3390/s23063144
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- Publication type:
- Article
Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.
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- BMC Genetics, 2003, v. 4, p. 5, doi. 10.1186/1471-2156-4-5
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- Publication type:
- Article
Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7.
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- Molecular Vision, 2021, v. 27, p. 221
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- Publication type:
- Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
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- Publication type:
- Article
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032
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- 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
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- Publication type:
- Article
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 2, p. 350, doi. 10.1007/s10875-020-00741-6
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- 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
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- Publication type:
- Article
Deep Learning with Automatic Data Augmentation for Segmenting Schisis Cavities in the Optical Coherence Tomography Images of X-Linked Juvenile Retinoschisis Patients.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 19, p. 3035, doi. 10.3390/diagnostics13193035
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- Publication type:
- 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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- Publication type:
- Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
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- Publication type:
- Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
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- Publication type:
- Article
Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1251, doi. 10.1002/humu.21350
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- Publication type:
- Article
Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1869, doi. 10.3390/genes14101869
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- 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
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- Publication type:
- Article
Letter to the editor regarding "A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy".
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 7, p. 2097, doi. 10.1007/s00417-023-06007-2
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- 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
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- Publication type:
- Article
A novel porcine model reproduces human oculocutaneous albinism type II.
- Published in:
- 2019
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- Publication type:
- Letter
Characteristics and risk factors of retinal vasculopathy in antiphospholipid syndrome.
- Published in:
- Lupus, 2022, v. 31, n. 2, p. 178, doi. 10.1177/09612033211069762
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- Publication type:
- Article