Search Results - "Sim, Weiying"

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    Delayed Diagnosis, Difficult Decisions: Novel Gene Deletion Causing X-Linked Hypophosphatemia in a Middle-Aged Man with Achondroplastic Features and Tertiary Hyperparathyroidism by Chin, Yun Ann, Zhao, Yi, Tay, Gerald, Sim, Weiying, Chow, Chun Yuen, Chandran, Manju

    Published in Case reports in endocrinology (2021)
    “…X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is…”
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    Journal Article
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    Association of NOTCH2NLC Repeat Expansions With Parkinson Disease by Ma, Dongrui, Tan, Yi Jayne, Ng, Adeline S L, Ong, Helen L, Sim, Weiying, Lim, Weng Khong, Teo, Jing Xian, Ng, Ebonne Y L, Lim, Ee-Chien, Lim, Ee-Wei, Chan, Ling-Ling, Tan, Louis C S, Yi, Zhao, Tan, Eng-King

    Published in JAMA neurology (01-12-2020)
    “…The presence of Notch homolog 2 N-terminal-like C (NOTCH2NLC) repeat expansions are associated with neuronal intranuclear inclusion body disease (NIID), with…”
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    Journal Article
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