about
The Human Phenotype Ontology in 2017The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical researchRD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Adult care for Duchenne muscular dystrophy in the UK.European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries.Critical points for an accurate human genome analysis.Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.222nd ENMC International Workshop:Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
P50
Q27927007-15D0AA74-DCFE-42A8-A723-71B51D473153Q33627845-767955AF-64F4-48DA-9A2E-1AB7CA0C7343Q34011881-210BCAD1-E6FE-41B0-B142-5BCE7C50DE00Q35187836-3EF114EB-AB62-4963-9035-254A17CEA090Q37589759-3DF0F22E-8A97-4D12-A76E-F8193793010EQ38760121-AA49ADDA-027C-49BF-99A0-6551588A1615Q39283243-C17CD8AF-30BD-48BE-9B54-47760A0E49CEQ42698350-2D614D94-8141-4A3C-9908-4B0050A9D447Q44619945-04ED3D15-FB4D-4E52-BC60-ABD1DCD19145Q45951421-770E246E-5EE5-4937-9E2A-4B930B6A81D8Q45951427-C3147200-C152-411C-941E-AB08F7520CF3Q47274350-6BE8EAEB-7007-40AF-9AD6-0C400D6BDB78Q51557307-B655BD22-19EE-42A7-9325-D93EA0A88F84Q52682381-D8C91B7D-0887-4412-B03F-78C668243CBCQ53185422-4556345C-58F9-46DB-8906-18FE441F3D2DQ54113826-F5029D30-7AFF-43A2-A95B-45DCD252969CQ58992684-42812266-A796-4C7B-9209-E127153604CEQ92974141-289E4407-0FA8-4358-B8D0-41036151550D
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Rachel Thompson
@ast
Rachel Thompson
@en
Rachel Thompson
@es
Rachel Thompson
@nl
type
label
Rachel Thompson
@ast
Rachel Thompson
@en
Rachel Thompson
@es
Rachel Thompson
@nl
prefLabel
Rachel Thompson
@ast
Rachel Thompson
@en
Rachel Thompson
@es
Rachel Thompson
@nl
P106
P1153
7406367569
P21
P31
P496
0000-0002-6889-0121