Publication & Citation Trends
Publications
0 total
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing OA
Cited by 18
Semantic Scholar
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy OA
Cited by 30
Semantic Scholar
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Cited by 1
Semantic Scholar
P.145 Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies
Cited by 1
Semantic Scholar
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases OA
Cited by 0
Semantic Scholar
DISTAL MYOPATHIES
Cited by 0
Semantic Scholar
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy OA
Cited by 2
Semantic Scholar
Solving unsolved rare neurological diseases—a Solve-RD viewpoint OA
Cited by 11
Semantic Scholar
Research Topics
Scoliosis diagnosis and treatment
(10)
Spine and Intervertebral Disc Pathology
(7)
Spinal Fractures and Fixation Techniques
(7)
Musculoskeletal pain and rehabilitation
(3)
Shoulder Injury and Treatment
(2)
Affiliations
North Bristol NHS Trust
Johannes Gutenberg University Mainz
Frenchay Hospital
University of Bristol
Workers Educational Association