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BMC Musculoskeletal Disorders|August 18, 2018
Use of The Global Alliance for Musculoskeletal Health survey module for estimating the population prevalence of musculoskeletal pain: findings from the Solomon IslandsD G Hoy, T Raikoti, E Smith, et al.
European Journal of Medical Genetics|June 15, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformationsRajesh Madhu, Glenda M Beaman, Kate E Chandler, et al.
Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.
The Journal of Pharmacology and Experimental Therapeutics|May 15, 1998
ABT-594 [(R)-5-(2-azetidinylmethoxy)-2-chloropyridine]: a novel, orally effective analgesic acting via neuronal nicotinic acetylcholine receptors: I. In vitro characterizationD L Donnelly-Roberts, P S Puttfarcken, T A Kuntzweiler, et al.
Journal of Clinical Immunology|July 23, 2022
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein BindingTimo C E Zondag, Lamberto Torralba-Raga, Jan A M Van Laar, et al.
American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.
EMBO Molecular Medicine|February 24, 2016
Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisense oligonucleotidesAnthony J Hinrich, Francine M Jodelka, Jennifer L Chang, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.
Arthritis Research & Therapy|June 16, 2019
Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profilesJohn A Reynolds, Tracy A Briggs, Gillian I Rice, et al.
International Journal of Cardiology|May 16, 2021
Stratified medicine using invasive coronary function testing in angina: A cost-effectiveness analysis of the British Heart Foundation CorMicA trialR Heggie, A Briggs, B Stanley, et al.
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