Nemaline Myopathy 2
|
0.920 |
Biomarker
|
disease |
CLINGEN |
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
|
30517146 |
2018 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
|
28132693 |
2017 |
Nemaline Myopathy 2
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
|
27933661 |
2017 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
|
27933661 |
2017 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
One in seven colorectal cancer patients is under 50, US study shows.
|
26809612 |
2016 |
Nemaline Myopathy 2
|
0.920 |
Biomarker
|
disease |
CLINGEN |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
|
27105866 |
2016 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
|
26841830 |
2016 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
|
27105866 |
2016 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
|
27357428 |
2016 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
|
27105866 |
2016 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
|
26809617 |
2016 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
|
26841830 |
2016 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
|
26197980 |
2016 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
Nemaline Myopathy 2
|
0.920 |
Biomarker
|
disease |
CLINGEN |
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.
|
25949787 |
2015 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
|
26578207 |
2015 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
"Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy."
|
26403434 |
2015 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
|
25356970 |
2015 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Nemaline Myopathy 2
|
0.920 |
Biomarker
|
disease |
CLINGEN |
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
|
26123491 |
2015 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project.
|
25205148 |
2015 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Nemaline Myopathy 2
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
|
24056153 |
2015 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
|
26578207 |
2015 |
Nemaline Myopathy 2
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
"Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy."
|
26403434 |
2015 |