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21 . Academic Journal
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
저자
by
Siu, Wai‐Kwan
;
Lam, Ching‐Wan
;
Mak, Chloe Miu
;
Lau, Elizabeth Tak‐Kwong
;
Tang, Mary Hoi‐Yin
, et al.
소스
Clinical & Translational Medicine
. Dec2016, Vol. 5 Issue 1, p1-8. 8p.
Open Access (Wiley)
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27 . Periodical
Determination of cerebrospinal fluid adenosine deaminase activity cut-off for the diagnosis of tuberculous meningitis in Hong Kong
저자
by
Chan, Toby Chun Hei
;
Chen, Sammy Pak Lam
;
Mak, Chloe Miu
;
Ching, Chor Kwan
;
Luk, Kristine Shik
, et al.
소스
Journal of Clinical Pathology; 2020, Vol. 73 Issue: 12 p800-802, 3p
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27 . Academic Journal
Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism
저자
by
Siu, Wai-Kwan
;
Lam, Ching-Wan
;
Gao, Wei-Wei
;
Vincent Tang, Hei-Man
;
Jin, Dong-Yan
, et al.
소스
Behavioural Brain Research
. Mar 01, 2016 300 Suppl C:135-142
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27 . Academic Journal
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
저자
by
Lee, Han-Chih Hencher
;
Wong, Shun
;
Sheng, Bun
;
Pan, Nin-Yuan Keith
;
Leung, Ying-Kit Frank
, et al.
소스
CLINICAL GENETICS
; MAY 2020, 97 5, p747-p757, 11p.
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27 . Academic Journal
Evaluation of the 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" in Hong Kong
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by
Lam, Rebecca Kit-yi
;
Lo, Ivan Fai-man
;
Leung, Chau-mau
;
Tong, Anna Yee-ha
;
Yeung, Sam Wing-chiu
, et al.
소스
HONG KONG JOURNAL OF PAEDIATRICS
; JAN 2020, 25 1, p16-p22, 7p.
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27 . Academic Journal
Mutational analysis for Wilson's disease
저자
by
Seto, Wai Kay
;
Mak, Chloe Miu
;
But, David
;
Hung, Ivun
;
Lam, Ching Wan
, et al.
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In
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2009 374(9690):662-662
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27 . Academic Journal
Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke.
저자
by
Lam, Ching-Wan
;
Law, Chun-Yiu
;
Siu, Wai-Kwan
;
Fung, Cheuk-Wing
;
Yau, Man-Mut
, et al.
소스
Clinica Chimica Acta
. Aug2015, Vol. 448, p211-214. 4p.
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27 . Academic Journal
NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.
저자
by
Lam, Ching-Wan
;
Law, Chun-Yiu
;
Leung, Ka-Fei
;
Lai, Chi-Kong
;
Pak-lam Chen, Sammy
, et al.
소스
Clinica Chimica Acta
. Feb2015, Vol. 440, p201-204. 4p.
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27 . Academic Journal
NMR-based urinalysis for beta-ketothiolase deficiency.
저자
by
Law, Chun-Yiu
;
Lam, Ching-Wan
;
Ching, Chor-kwan
;
Yau, Kin-Cheong Eric
;
Ho, Tsz-wai
, et al.
소스
Clinica Chimica Acta
. Jan2015, Vol. 438, p222-225. 4p.
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27 . Academic Journal
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
저자
by
Chong, Yeow Kuan
;
Kwan Ma, Louis Che
;
Lo, Kit Lin
;
Lai Lee, Clary Ka
;
Mak, Chloe Miu
, et al.
소스
European Journal of Paediatric Neurology; Jul2014, Vol. 18 Issue 4, p532-535, 4p
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