Detalhe da pesquisa
1.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
2.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Muscle Nerve
; 58(2): 224-234, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29624713
3.
Large-scale functional RNAi screen in C. elegans identifies genes that regulate the dysfunction of mutant polyglutamine neurons.
BMC Genomics
; 13: 91, 2012 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22413862
4.
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Can J Neurol Sci
; 44(1): 125-127, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27748205
5.
Comparison of commercially available whole-genome sequencing kits for variant detection in circulating cell-free DNA.
Sci Rep
; 10(1): 6190, 2020 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277101
6.
Support vector machine-based classification of Alzheimer's disease from whole-brain anatomical MRI.
Neuroradiology
; 51(2): 73-83, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846369
7.
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
PLoS One
; 13(4): e0195471, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621323
8.
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscul Disord
; 27(11): 975-985, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818389
9.
Magnetic resonance imaging of Alzheimer's disease.
Eur Radiol
; 17(2): 347-62, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16865367