Rosaline C. M. Quinlivan
0000-0002-2306-4782
Publication & Citation Trends
Publications
0 total
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy
Cited by 9
Semantic Scholar
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Cited by 13
Semantic Scholar
Cardiac Outcomes in Adults With Mitochondrial Diseases. OA
Cited by 21
Semantic Scholar
MANGANESE deficiency. OA
Cited by 21
Semantic Scholar
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing OA
Cited by 25
Semantic Scholar
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort OA
Cited by 9
Semantic Scholar
Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure OA
Cited by 2
Semantic Scholar
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report OA
Cited by 181
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(134)
Glycogen Storage Diseases and Myoclonus
(110)
Neurogenetic and Muscular Disorders Research
(70)
Genetic Neurodegenerative Diseases
(66)
Cardiomyopathy and Myosin Studies
(49)
Affiliations
LifeArc
Universitat Autònoma de Barcelona
National Health Service
Belfast Health and Social Care Trust
University College Hospital