A Novel Approach to Gene Analysis: Gene Panels and Cluster Definition to Assist Genotyping Patients with Congenital Myopathies
暂无分享,去创建一个
Raffaele Conte | Alessandro Tonacci | Ilaria Ceppa | Guja Astrea | Filippo M. Santorelli | Marco Calderisi | Denise Cassandrini | Rosanna Trovato | Giulia Bertocci | A. Tonacci | F. Santorelli | Raffaele Conte | Giulia Bertocci | G. Astrea | R. Trovato | D. Cassandrini | M. Calderisi | Ilaria Ceppa
[1] J. MacQueen. Some methods for classification and analysis of multivariate observations , 1967 .
[2] G. Comi,et al. Congenital myopathies: clinical phenotypes and new diagnostic tools , 2017, Italian Journal of Pediatrics.
[3] D. MacArthur,et al. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there , 2016, Annals of neurology.
[4] Jj Allaire,et al. Web Application Framework for R , 2016 .
[5] R Core Team,et al. R: A language and environment for statistical computing. , 2014 .
[6] Ching H. Wang,et al. Diagnostic approach to the congenital muscular dystrophies , 2014, Neuromuscular Disorders.
[7] V. Nigro,et al. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. , 2016, Current opinion in neurology.
[8] Ching H. Wang,et al. Approach to the diagnosis of congenital myopathies , 2014, Neuromuscular Disorders.
[9]
R. Durbin,et al.
Mapping Quality Scores Mapping Short Dna Sequencing Reads and Calling Variants Using P ,
2022
.
[10]
J. Edward Jackson,et al.
The User's Guide to Multidimensional Scaling
,
1985
.
[11]
Trevor F. Cox,et al.
Metric multidimensional scaling
,
2000
.
[12]
L. Wilkins,et al.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
,
2016,
Neurology.
[13]
G. Comi,et al.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
,
2018,
Orphanet Journal of Rare Diseases.
[14]
S. Salzberg,et al.
Bioinformatics challenges of new sequencing technology.
,
2008,
Trends in genetics : TIG.