| Status | Active |
|---|---|
| Effective start/end date | 1/01/17 → 31/12/21 |
| Links | http://purl.org/au-research/grants/nhmrc/1117510 |
Funding
- National Health & Medical Research Council NHMRC
Access Project
Related content
Research Output
Genetics of neuromuscular fetal akinesia in the genomics era
Research output: Contribution to journal › Review article
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
Research output: Contribution to journal › Article
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Research output: Contribution to journal › Article
Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments
Research output: Contribution to journal › Article
Recessive MYH7-related myopathy in two families
Research output: Contribution to journal › Article
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
Research output: Contribution to journal › Article
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Research output: Contribution to journal › Article
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction
Research output: Contribution to journal › Article
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
Research output: Contribution to journal › Article
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Research output: Contribution to journal › Article
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
Research output: Contribution to journal › Article
STRetch: Detecting and discovering pathogenic short tandem repeat expansions
Research output: Contribution to journal › Article
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Research output: Contribution to journal › Article
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening
Research output: Contribution to journal › Article
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Research output: Contribution to journal › Article