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A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-53620-8
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- Publication type:
- Article
NOTCH2NLC-linked neuronal intranuclear inclusion body disease and fragile X-associated tremor/ataxia syndrome.
- Published in:
- 2020
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- Publication type:
- Letter
NOTCH2NLC trinucleotide interruptions are associated with cognitive impairment in neuronal intranuclear inclusion disease (NIID).
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.076933
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- Publication type:
- Article
Harnessing technology and molecular analysis to understand the development of cardiovascular diseases in Asia: a prospective cohort study (SingHEART).
- Published in:
- 2019
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- Publication type:
- journal article
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02056-7
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- Publication type:
- Article
Correction to: Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Family history assessment significantly enhances delivery of precision medicine in the genomics era.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-020-00819-1
- By:
- Publication type:
- Article
Genomic landscapes of breast fibroepithelial tumors.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1341, doi. 10.1038/ng.3409
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- Publication type:
- Article
Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 877, doi. 10.1038/ng.3037
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- Publication type:
- Article
Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.
- Published in:
- Nature Genetics, 2013, v. 45, n. 12, p. 1474, doi. 10.1038/ng.2806
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- Publication type:
- Article
Beyond fitness tracking: The use of consumer-grade wearable data from normal volunteers in cardiovascular and lipidomics research.
- Published in:
- PLoS Biology, 2018, v. 16, n. 2, p. 1, doi. 10.1371/journal.pbio.2004285
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- Publication type:
- Article
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41256-z
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- Publication type:
- Article
Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.826634
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- Publication type:
- Article
Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.645913
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- Publication type:
- Article
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
- Published in:
- JNCI Cancer Spectrum, 2018, v. 2, n. 4, p. N.PAG, doi. 10.1093/jncics/pky054
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- Publication type:
- Article
Implementation of genomics in medical practice to deliver precision medicine for an Asian population.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0085-8
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- Publication type:
- Article
Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0070-7
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- Publication type:
- Article
Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Variation in predicted COVID‐19 risk among lemurs and lorises.
- Published in:
- American Journal of Primatology, 2021, v. 83, n. 6, p. 1, doi. 10.1002/ajp.23255
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- Publication type:
- Article
Association of NOTCH2NLC Repeat Expansions With Parkinson Disease.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 12, p. 1559, doi. 10.1001/jamaneurol.2020.3023
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- Publication type:
- Article
An Optimised Protocol Harnessing Laser Capture Microdissection for Transcriptomic Analysis on Matched Primary and Metastatic Colorectal Tumours.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-55146-2
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- Publication type:
- Article
High-Resolution Digital Phenotypes From Consumer Wearables and Their Applications in Machine Learning of Cardiometabolic Risk Markers: Cohort Study.
- Published in:
- 2022
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- Publication type:
- journal article
C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 4, p. 568, doi. 10.1002/acn3.51744
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- Publication type:
- Article
Transcriptomic convergence despite genomic divergence drive field cancerization in synchronous squamous tumors.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1272432
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- Publication type:
- Article
Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 378, p. 1, doi. 10.1126/scitranslmed.aai8312
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- Publication type:
- Article
Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 274, doi. 10.1111/cge.13802
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- Publication type:
- Article
Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy.
- Published in:
- Neurology Asia, 2023, v. 28, n. 1, p. 185, doi. 10.54029/2023vkd
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- Publication type:
- Article
Expanding the DARS phenotype: Late-adult onset myelopathy and leukoencephalopathy.
- Published in:
- Neurology Asia, 2023, v. 28, n. 1, p. 185, doi. 10.54029/2023vkd
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- Publication type:
- Article
NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up.
- Published in:
- 2020
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- Publication type:
- journal article
Investigation into the origins of an ancient BRCA1 founder mutation identified among Chinese families in Singapore.
- Published in:
- International Journal of Cancer, 2021, v. 148, n. 3, p. 637, doi. 10.1002/ijc.33241
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- Publication type:
- Article
High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.631407
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- Publication type:
- Article
Genome-Wide Mutational Signatures of Aristolochic Acid and Its Application as a Screening Tool.
- Published in:
- Science Translational Medicine, 2013, v. 5, n. 197, p. 1, doi. 10.1126/scitranslmed.3006086
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- Publication type:
- Article
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 10, p. 1829, doi. 10.1002/mds.29932
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- Publication type:
- Article
Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0605-1
- By:
- Publication type:
- Article
Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.
- Published in:
- Genome Medicine, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13073-015-0219-2
- By:
- Publication type:
- Article
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55424-8
- By:
- Publication type:
- Article