Detalhe da pesquisa
1.
Genetics in neovascular age-related macular degeneration susceptibility and treatment response to anti-VEGF intravitreal injection: A case series study.
Clin Exp Ophthalmol
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757252
2.
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
J Pediatr
; 258: 113408, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019333
3.
SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.
J Formos Med Assoc
; 122(7): 648-652, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964102
4.
Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage.
Eur J Neurol
; 29(11): 3243-3254, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781912
5.
Risk factors related to age at diagnosis of pancreatic cancer: a retrospective cohort pilot study.
BMC Gastroenterol
; 22(1): 243, 2022 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568803
6.
Hearing Features and Cochlear Implantation Outcomes in Patients With Pathogenic MYO15A Variants: a Multicenter Observational Study.
Ear Hear
; 43(4): 1198-1207, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974475
7.
PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
Retina
; 42(4): 797-806, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923510
8.
Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease.
J Formos Med Assoc
; 121(11): 2331-2337, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35370030
9.
Clinical manifestations and genetic characteristics in the Taiwan thoracic aortic aneurysm and dissection cohort - a prospective cohort study.
J Formos Med Assoc
; 121(6): 1093-1101, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456093
10.
Investigating DYT1 in a Taiwanese dystonia cohort.
J Formos Med Assoc
; 121(1 Pt 2): 375-380, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092466
11.
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.
J Formos Med Assoc
; 120(2): 883-892, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32919876
12.
Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.
Am J Med Genet B Neuropsychiatr Genet
; 186(2): 67-76, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580635
13.
P53 ICE CRIM mouse: a tool to generate mutant allelic series in somatic cells and germ lines for cancer studies.
FASEB J
; 33(4): 5571-5584, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640520
14.
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
BMC Neurol
; 20(1): 101, 2020 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32183746
15.
Prediction Model for Audiological Outcomes in Patients With GJB2 Mutations.
Ear Hear
; 41(1): 143-149, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31246659
16.
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
Mov Disord
; 34(4): 506-515, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788857
17.
HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome.
J Formos Med Assoc
; 118(8): 1225-1231, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056381
18.
ABO genotyping with next-generation sequencing to resolve heterogeneity in donors with serology discrepancies.
Transfusion
; 58(9): 2232-2242, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770457
19.
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan.
Pediatr Diabetes
; 19(4): 699-706, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383806