Detalhe da pesquisa
1.
Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia.
J Neuroinflammation
; 21(1): 47, 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347588
2.
Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.
BMC Endocr Disord
; 24(1): 47, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622573
3.
Differentiation, maturation, and collection of THP-1-derived dendritic cells based on a PEG hydrogel culture platform.
Biotechnol Lett
; 46(2): 235-247, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231384
4.
KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing.
Am J Med Genet B Neuropsychiatr Genet
; : e32984, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38597354
5.
Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status.
Ann Surg Oncol
; 30(5): 2916-2925, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637642
6.
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Pediatr Res
; 94(5): 1764-1770, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37286773
7.
The Diagnostic Yield and Difficulties of Utilizing Soft-clipped Read Clusters Encountered in Clinical Exome Sequencing.
Clin Lab
; 69(4)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057930
8.
Structural Characteristics and Properties of Cocoon and Regenerated Silk Fibroin from Different Silkworm Strains.
Int J Mol Sci
; 24(5)2023 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902396
9.
Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations.
Mod Pathol
; 35(2): 186-192, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497362
10.
De novo mutations in SOD1 are a cause of ALS.
J Neurol Neurosurg Psychiatry
; 93(2): 201-206, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518333
11.
Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population.
Mol Vis
; 27: 283-287, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012230
12.
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
Clin Genet
; 98(1): 64-68, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185794
13.
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
Am J Med Genet A
; 182(11): 2788-2792, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902151
14.
Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of BRAF-Prevalent Population.
Int J Mol Sci
; 21(16)2020 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32781560
15.
GenoType NTM-DR Performance Evaluation for Identification of Mycobacterium avium Complex and Mycobacterium abscessus and Determination of Clarithromycin and Amikacin Resistance.
J Clin Microbiol
; 57(8)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167842
16.
Repeated Intrathecal Mesenchymal Stem Cells for Amyotrophic Lateral Sclerosis.
Ann Neurol
; 84(3): 361-373, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048006
17.
Development of Macrolide Resistance and Reinfection in Refractory Mycobacterium avium Complex Lung Disease.
Am J Respir Crit Care Med
; 198(10): 1322-1330, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29877739
18.
Comparison between DiaPlexQ™ STI6 and GeneFinder™ STD I/STD II multiplex Real-time PCR Kits in the detection of six sexually transmitted disease pathogens.
J Clin Lab Anal
; 33(3): e22703, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390337
19.
Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease.
Stroke
; 49(11): 2597-2604, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30355208
20.
Nontuberculous Mycobacterial Lung Diseases Caused by Mixed Infection with Mycobacterium avium Complex and Mycobacterium abscessus Complex.
Antimicrob Agents Chemother
; 62(10)2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30104265