Detalhe da pesquisa
1.
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Am J Hum Genet
; 110(11): 1959-1975, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883978
2.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
3.
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
J Inherit Metab Dis
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38597022
4.
FXN gene methylation determines carrier status in Friedreich ataxia.
J Med Genet
; 60(8): 797-800, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635061
5.
Creation of an Enhanced Primary Care Registered Nurse Preceptor Role: A Pilot Project.
J Community Health Nurs
; 41(2): 75-81, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919268
6.
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Hum Mol Genet
; 29(23): 3818-3829, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432325
7.
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
Mol Genet Metab
; 139(2): 107606, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37224763
8.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
J Inherit Metab Dis
; 46(2): 326-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36719165
9.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
10.
Evaluating a pilot community-based FITMIND exercise programme for psychosis in Hong Kong.
BMC Psychiatry
; 23(1): 385, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259084
11.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
12.
Patient-reported outcomes and quality of life in PMM2-CDG.
Mol Genet Metab
; 136(2): 145-151, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491370
13.
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Mol Genet Metab
; 136(4): 296-305, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35787971
14.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652821
15.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis
; 45(5): 969-980, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716054
16.
Hair to blood mercury concentration ratios and a retrospective hair segmental mercury analysis in the Northwest Territories, Canada.
Environ Res
; 203: 111800, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34364863
17.
Assessment of Structural Competency in Baccalaureate Nursing Students: A Descriptive Study.
Nurs Educ Perspect
; 43(3): 187-189, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-33859153
18.
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genet Med
; 23(9): 1604-1615, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040193
19.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Mol Genet Metab
; 133(4): 397-399, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140212
20.
ABO maternal-child discordance: Evidence of variable allelic expression and considerations for investigation.
Transfusion
; 61(3): 979-985, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475168