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Chong, Shuk Ching
177
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Online (176)
Print (1)
Mediatypes
Articles (Online) (157)
Articles (Print) (1)
Bookchapter (Online) (2)
OpenAccess-fulltext (17)
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english (164)
italian (1)
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Sorted by: Year
?
1
Expansion of the clinical and molecular spectrum of WWOX‐re..:
Chong, Shuk Ching
;
Cao, Ye
;
Fung, Eva L. W.
...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 776-785 , 2022
Link:
https://doi.org/10.1002/..
?
2
Case Report: Novel Biallelic Variants in the COL18A1 Gene i..:
Chong, Shuk Ching
;
Yuen, Yuet-Ping
;
Cao, Ye
...
Frontiers in Neurology. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
3
Implementation of Public Funded Genome Sequencing in Evalua..:
So, Po Lam
;
Hui, Annie Shuk Yi
;
Ma, Teresa Wei Ling
...
Genes. 13 (2022) 11 - p. 2088 , 2022
Link:
https://doi.org/10.3390/..
?
4
Clinical Implementation of Expanded Carrier Screening in Pr..:
Shi, Mengmeng
;
Liauw, Angeline Linna
;
Tong, Steve
...
Genes. 12 (2021) 4 - p. 496 , 2021
Link:
https://doi.org/10.3390/..
?
5
Low-pass genome sequencing: a validated method in clinical ..:
Chau, Matthew Hoi Kin
;
Wang, Huilin
;
Lai, Yunli
...
Human Genetics. 139 (2020) 11 - p. 1403-1415 , 2020
Link:
https://doi.org/10.1007/..
?
6
Severe Generalized Epidermolysis Bullosa Simplex in Two Hon..:
Chong, Shuk Ching
;
Hon, Kam Lun
;
Scaglia, Fernando
...
Case Reports in Pediatrics. 2020 (2020) - p. 1-5 , 2020
Link:
https://doi.org/10.1155/..
?
7
Adverse Effects of Azathioprine in a Child and Her Mother w..:
Hon, Kam Lun
;
Chang, Mimi
;
Chong, Shuk Ching
..
The Indian Journal of Pediatrics. 85 (2018) 10 - p. 918-919 , 2018
Link:
https://doi.org/10.1007/..
?
8
Biallelic mutations in the ferredoxin reductase gene cause ..:
Peng, Yanyan
;
Shinde, Deepali N
;
Valencia, C Alexander
...
Human Molecular Genetics. 26 (2017) 24 - p. 4937-4950 , 2017
Link:
https://doi.org/10.1093/..
?
9
Expanded Newborn Screening for Inborn Errors of Metabolism ..:
Belaramani, Kiran Moti
;
Chan, Toby Chun Hei
;
Hau, Edgar Wai Lok
...
International Journal of Neonatal Screening. 10 (2024) 1 - p. 23 , 2024
Link:
https://doi.org/10.3390/..
?
10
Mitochondrial diseases in Hong Kong: prevalence, clinical c..:
Wong, Tsz-sum
;
Belaramani, Kiran M.
;
Chan, Chun-kong
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
11
Primary coenzyme Q10 deficiency-7: expanded phenotypic spec..:
Yu, Mullin Ho-Chung
;
Tsang, Mandy Ho-Yin
;
Lai, Sophie
...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
12
Implementation of Public Funded Genome Sequencing in Evalua..:
So, Po Lam
;
Hui, Annie Shuk Yi
;
Ma, Teresa Wei Ling
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690018/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
13
Case Report: Novel Biallelic Variants in the COL18A1 Gene i..:
Chong, Shuk Ching
;
Yuen, Yuet-Ping
;
Cao, Ye
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178278/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
14
Clinical Implementation of Expanded Carrier Screening in Pr..:
Shi, Mengmeng
;
Liauw, Angeline Linna
;
Tong, Steve
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8066122/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Biallelic mutations in the ferredoxin reductase gene cause ..:
Peng, Yanyan
;
Shinde, Deepali N
;
Valencia, C Alexander
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886230/. , 2017
Link:
http://www.ncbi.nlm.nih...
1-15
