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Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical utility of serum reproductive hormones for the early diagnosis of ectopic pregnancy in the first trimester.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 2, p. 528, doi. 10.1111/j.1447-0756.2012.02001.x
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- Publication type:
- Article
Periodontal disease increases the host susceptibility to COVID-19 and its severity: a Mendelian randomization study.
- Published in:
- 2021
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- Publication type:
- journal article
Associations between 25 hydroxyvitamin D concentration and spontaneous abortion.
- Published in:
- BMC Public Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12889-024-19078-5
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- Publication type:
- Article
Novel CHM mutations identified in Chinese families with Choroideremia.
- Published in:
- Scientific Reports, 2016, p. 35360, doi. 10.1038/srep35360
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- Publication type:
- Article
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
- Published in:
- Scientific Reports, 2016, p. 35414, doi. 10.1038/srep35414
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- Publication type:
- Article
Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090599
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- Publication type:
- Article
Targeted Exome Sequencing Identified Novel <i>USH2A</i> Mutations in Usher Syndrome Families
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063832
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- Publication type:
- Article
Proteomic analysis reveals potential therapeutic targets for childhood asthma through Mendelian randomization.
- Published in:
- Clinical & Translational Allergy, 2024, v. 14, n. 5, p. 1, doi. 10.1002/clt2.12357
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- Publication type:
- Article
Minimal effect of sleep on the risk of age-related macular degeneration: a Mendelian randomization study.
- Published in:
- Frontiers in Aging Neuroscience, 2023, p. 01, doi. 10.3389/fnagi.2023.1159711
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- Publication type:
- Article
‘RetinoGenetics’: a comprehensive mutation database for genes related to inherited retinal degeneration.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau047
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- Publication type:
- Article
Proteome-wide analysis reveals potential therapeutic targets for Colorectal cancer: a two-sample mendelian randomization study.
- Published in:
- BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-11669-6
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- Publication type:
- Article
Lack of association between HER2 codon 655 polymorphism and breast cancer susceptibility was not credible: appraisal of a recent meta-analysis.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Featured Cover.
- Published in:
- Cell Proliferation, 2023, v. 56, n. 11, p. 1, doi. 10.1111/cpr.13574
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- Publication type:
- Article
Single‐cell RNA sequencing reveals new subtypes of lens superficial tissue in humans.
- Published in:
- Cell Proliferation, 2023, v. 56, n. 11, p. 1, doi. 10.1111/cpr.13477
- By:
- Publication type:
- Article
CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/4321419
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- Publication type:
- Article
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
- Published in:
- Nature Communications, 2014, v. 5, n. 3, p. 3517, doi. 10.1038/ncomms4517
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- Publication type:
- Article
Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes.
- Published in:
- Molecular Medicine Reports, 2015, v. 12, n. 4, p. 5983, doi. 10.3892/mmr.2015.4204
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. i, doi. 10.1111/cge.13584
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- Publication type:
- Article
Whole‐exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod‐cone dystrophy, cataract, and posterior staphyloma) syndrome.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 61, doi. 10.1111/cge.13541
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- Publication type:
- Article
Causal effects of serum lipid biomarkers on early age-related macular degeneration using Mendelian randomization.
- Published in:
- Genes & Nutrition, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s12263-023-00730-5
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- Publication type:
- Article
Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 4, p. 486, doi. 10.1111/ceo.13708
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- Publication type:
- Article
Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 3, p. 197, doi. 10.1111/ceo.12664
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- Publication type:
- Article
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111
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- Publication type:
- Article
Clinical Analysis of Sphenoid Sinus Mucocele With Initial Neurological Symptoms.
- Published in:
- Headache: The Journal of Head & Face Pain, 2019, v. 59, n. 8, p. 1270, doi. 10.1111/head.13605
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- Publication type:
- Article
CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.
- Published in:
- Journal of Gene Medicine, 2016, v. 18, n. 8, p. 193, doi. 10.1002/jgm.2890
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- Publication type:
- Article
Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.
- Published in:
- 2024
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- Publication type:
- Case Study
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
- Published in:
- Experimental & Molecular Medicine EMM, 2018, v. 50, n. 4, p. 1, doi. 10.1038/s12276-018-0079-0
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- Publication type:
- Article
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
- Published in:
- Experimental & Molecular Medicine EMM, 2018, v. 50, n. 4, p. 1, doi. 10.1038/s12276-018-0079-0
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- Publication type:
- Article
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1039, doi. 10.1002/humu.23759
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- Publication type:
- Article
Editorial: Spondyloarthritis and omics.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1475294
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- Publication type:
- Article
Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/302487
- By:
- Publication type:
- Article