Detalhe da pesquisa
1.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Hum Genomics
; 14(1): 28, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32907636
2.
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic.
Clin Dysmorphol
; 31(3): 113-124, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256561
3.
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
NPJ Genom Med
; 5(1): 37, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963807
4.
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Mol Genet Genomic Med
; 8(5): e1205, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154989
5.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Mol Genet Genomic Med
; 8(7): e1229, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32352246
6.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327338
7.
A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
JIMD Rep
; 47(1): 23-29, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240163
8.
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35.
Parkinsonism Relat Disord
; 63: 42-45, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670339
9.
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
BMC Med Genomics
; 11(1): 93, 2018 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359267