Table S3. Mapping of clinical terms to reference systems. CTO = the Clinical Trials Ontology; CTV3 = the Read Codes Clinical Terms Version 3; HPO = the Human Phenotype Ontology; ICECI = the International Classification of External Causes of Injuries; ICF = the International Classification of Functioning, Disability and Health; LOINC = the Logical Observation Identifier Names and Codes; MEDDRA = the Medical Dictionary for Regulatory Activities; MESH = the Medical Subject Headings; NCIt = the National Cancer Institute Thesaurus; NLMVS = the NIH NLM Value Sets; OMIM = the Online Mendelian Inheritance in Man; PHENX = the PhenX Phenotypic Terms; SMASH = the SMASH Ontology; SNOMED-CT = the Systematized Nomenclature of Medicine - Clinical Terms; X...
Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...
NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb
Normalized muscle activity. Median and interquartile ranges of normalized muscle activity when perfo...
Table S2. Conflicts identification rules for the clinical evaluation questionnaire. (PDF 54 kb
Figure S4. Network of reference centers contributing to the French FSHD registry (PNG 112 kb
Table S1. Pre-filling rules for the self-report and the clinical evaluation questionnaires. (PDF 59 ...
Figure S3. French National FSHD registry - INCLUSION FORM – FSHD LIKE (PDF 473 kb
results_DMDtoolkit. This folder includes all the results produced by DMDtoolkit, such as “prediction...
Linear regression of association between global Extracellular Volume Fraction and diagnosis (Duchenn...
Additional file 1. Supplemental Table 1. List of Measures by Age Cohort. Supplemental Table 2. Prope...
Survey to capture details about the registry, database or mailing list. (PDF 270 kb
Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...
Joint torques. Median and interquartile ranges of the measured joint torques in healthy controls, DM...
Maximum trunk angles. Median and interquartile ranges for maximum trunk angles during active trunk m...
Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...
Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...
NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb
Normalized muscle activity. Median and interquartile ranges of normalized muscle activity when perfo...
Table S2. Conflicts identification rules for the clinical evaluation questionnaire. (PDF 54 kb
Figure S4. Network of reference centers contributing to the French FSHD registry (PNG 112 kb
Table S1. Pre-filling rules for the self-report and the clinical evaluation questionnaires. (PDF 59 ...
Figure S3. French National FSHD registry - INCLUSION FORM – FSHD LIKE (PDF 473 kb
results_DMDtoolkit. This folder includes all the results produced by DMDtoolkit, such as “prediction...
Linear regression of association between global Extracellular Volume Fraction and diagnosis (Duchenn...
Additional file 1. Supplemental Table 1. List of Measures by Age Cohort. Supplemental Table 2. Prope...
Survey to capture details about the registry, database or mailing list. (PDF 270 kb
Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...
Joint torques. Median and interquartile ranges of the measured joint torques in healthy controls, DM...
Maximum trunk angles. Median and interquartile ranges for maximum trunk angles during active trunk m...
Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...
Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...
NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb
Normalized muscle activity. Median and interquartile ranges of normalized muscle activity when perfo...