Detalhe da pesquisa
1.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537114
2.
Low-pass genome sequencing: a validated method in clinical cytogenetics.
Hum Genet
; 139(11): 1403-1415, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451733
3.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
4.
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Orphanet J Rare Dis
; 18(1): 43, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859275
5.
Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome.
Front Neurol
; 13: 853918, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693012
6.
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
Genes (Basel)
; 13(11)2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360323
7.
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
J Dermatolog Treat
; 32(1): 29-32, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280950
8.
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Genes (Basel)
; 12(4)2021 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33805278
9.
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.
Case Rep Pediatr
; 2020: 4206348, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32351751
10.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ Genom Med
; 4: 18, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396399
11.
Adverse Effects of Azathioprine in a Child and Her Mother with Eczema.
Indian J Pediatr
; 85(10): 918-919, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29752582