Found: 17
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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03306-7
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- Publication type:
- Article
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.
- Published in:
- Scientific Reports, 2016, p. 20914, doi. 10.1038/srep20914
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- Publication type:
- Article
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
- Published in:
- Scientific Reports, 2015, p. 17947, doi. 10.1038/srep17947
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- Publication type:
- Article
Nano-sized ZnO supported on poly(triazine imide) nanotube for visible light driven photocatalytic reduction of Cr(VI).
- Published in:
- Journal of Materials Science: Materials in Electronics, 2018, v. 29, n. 22, p. 19509, doi. 10.1007/s10854-018-0081-2
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- Publication type:
- Article
Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing.
- Published in:
- Annals of Neurology, 2021, v. 90, n. 4, p. 693, doi. 10.1002/ana.26191
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- Publication type:
- Article
Evaluation of Four Genetic Variants in Han Chinese Subjects with High Myopia.
- Published in:
- Journal of Ophthalmology, 2015, v. 2015, p. 1, doi. 10.1155/2015/729463
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- Publication type:
- Article
Identification of LRRC46 as a novel candidate gene for high myopia.
- Published in:
- SCIENCE CHINA Life Sciences, 2024, v. 67, n. 9, p. 1941, doi. 10.1007/s11427-024-2583-6
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- Publication type:
- Article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
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- Publication type:
- Article
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
- Published in:
- JAMA Neurology, 2023, v. 80, n. 6, p. 578, doi. 10.1001/jamaneurol.2023.0473
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- Publication type:
- Article
Genetic variants influencing lipid levels and risk of dyslipidemia in Chinese population.
- Published in:
- Journal of Genetics, 2017, v. 96, n. 6, p. 985, doi. 10.1007/s12041-017-0864-x
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- Publication type:
- Article
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
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- Publication type:
- Article
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 2, p. 758, doi. 10.1002/epi4.12887
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- Publication type:
- Article
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
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- Publication type:
- Article
Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.594
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- Publication type:
- Article
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1423, doi. 10.3892/mmr.2018.9130
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- Publication type:
- Article
Emerging MoS<sub>2</sub> Wafer-Scale Technique for Integrated Circuits.
- Published in:
- Nano-Micro Letters, 2023, v. 15, n. 1, p. 1, doi. 10.1007/s40820-022-01010-4
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- Publication type:
- Article