يعرض 1 - 8 نتائج من 8 نتيجة بحث عن '"Chan, Toby Chun Hei"', وقت الاستعلام: 1.09s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Computer-assisted patient identification tool in inborn errors of metabolism – potential for rare disease patient registry and big data analysis

    المؤلفون: Mak, Chloe Miu, Woo, Pauline Pao Sun, Song, Felicite Enyu, Chan, Felix Chi Hang, Chan, Grace Pui Ying, Pang, Tony Long Fung, Au, Brian Siu Chun, Chan, Toby Chun Hei, Chong, Yeow Kuan, Law, Eric Chun Yiu, Lam, Ching Wan

    المصدر: In Clinica Chimica Acta 15 July 2024 561

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  2. 2
    دورية أكاديمية
    Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

    المؤلفون: Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu

    المصدر: Journal of Laboratory Medicine, Vol 45, Iss 6, Pp 267-274 (2021)

    مصطلحات موضوعية: dried blood spot (dbs), inborn errors of metabolism (iem), newborn screening (nbs), next generation sequencing (ngs), second-tier test, Medical technology, R855-855.5

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2567-9430; https://doaj.org/toc/2567-9449

    URL الوصول: https://doaj.org/article/c03a73c6d0dc48728b055e558ab12c4f

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  3. 3
    دورية أكاديمية
    Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

    المؤلفون: Belaramani, Kiran Moti, Chan, Toby Chun Hei, Hau, Edgar Wai Lok, Yeung, Matthew Chun Wing, Kwok, Anne Mei Kwun, Lo, Ivan Fai Man, Law, Terry Hiu Fung, Wu, Helen, Wong, Sheila Suet Na, Lam, Shirley Wai, Ha, Gladys Ha Yin, Lau, Toby Pui Yee, Wong, Tsz Ki, Or, Venus Wai Ching, Wong, Rosanna Ming Sum, Ming, Wong Lap, Chow, Jasmine Chi Kwan, Yau, Eric Kin Cheong, Fu, Antony, Chong, Josephine Shuk Ching

    المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p23, 14p

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  4. 4
    دورية أكاديمية
    Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

    المؤلفون: Chan, Toby Chun Hei, Mak, Chloe Miu, Yeung, Matthew Chun Wing, Law, Eric Chun-Yiu, Cheung, Jana, Wong, Tsz Ki, Cheng, Vincent Wing-Sang, Lee, Jacky Kwan Ho, Wong, Jimmy Chi Lap, Fung, Cheuk Wing, Belaramani, Kiran Moti, Kwok, Anne Mei Kwun, Tsang, Kwok Yeung

    المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p19, 10p

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  5. 5
    دورية أكاديمية
    Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father—A peculiar pattern of X‐linked recessive inheritance.

    المؤلفون: Chan, Toby Chun Hei, Cheung, Hoi Ning, Chow, Jasmine, Leung, Mei Tik, Chen, Sammy Pak Lam, Shek, Chi Chung

    المصدر: Clinical Case Reports; Sep2022, Vol. 10 Issue 9, p1-5, 5p

    مصطلحات موضوعية: RECESSIVE genes, ORNITHINE, GIRLS, HYPERAMMONEMIA, GENETIC testing, HEREDITY, MISSENSE mutation

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  6. 6
    دورية
    Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

    المؤلفون: Tsang, Kwok Yeung, Chan, Toby Chun Hei, Yeung, Matthew Chun Wing, Wong, Tsz Ki, Lau, Wan Ting, Mak, Chloe Miu

    المصدر: LaboratoriumsMedizin; December 2021, Vol. 45 Issue: 6 p267-274, 8p

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  7. 7
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  8. 8
    تقرير
    Case Report: The first familial hCG syndrome in a Chinese family.

    المؤلفون: Hung LY; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.; Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong., Leung MT; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Chan TC; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Cheung HN; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Li WH; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Cheung YS; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Wong AS; Department of Obstetrics & Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Shek CC; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong., Chen SP; Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.

    المصدر: F1000Research [F1000Res] 2021 Jun 08; Vol. 10, pp. 458. Date of Electronic Publication: 2021 Jun 08 (Print Publication: 2021).

    نوع المنشور: Case Reports

    بيانات الدورية: Publisher: F1000 Research Ltd Country of Publication: England NLM ID: 101594320 Publication Model: eCollection Cited Medium: Internet ISSN: 2046-1402 (Electronic) Linking ISSN: 20461402 NLM ISO Abbreviation: F1000Res Subsets: MEDLINE

    مواضيع طبية MeSH: Chorionic Gonadotropin, beta Subunit, Human*, Adult ; China ; Female ; Hong Kong ; Humans ; Pregnancy

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