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UnknownAdvancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
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S-EPMC11257830 | biostudies-literature
UnknownExome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
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S-EPMC8440675 | biostudies-literature
UnknownDe novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
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S-EPMC7007577 | biostudies-literature
UnknownDeath following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.
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S-EPMC10364875 | biostudies-literature
UnknownPreliminary model assessing the cost-effectiveness of preoperative chlorhexidine mouthwash at reducing postoperative pneumonia among abdominal surgery patients in South Africa.
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S-EPMC8360544 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
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S-EPMC12056793 | biostudies-literature
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