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UnknownLoss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
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S-EPMC7035241 | biostudies-literature
UnknownCombining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
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S-EPMC8354858 | biostudies-literature
UnknownBi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
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S-EPMC12120178 | biostudies-literature
UnknownClinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
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S-EPMC12042808 | biostudies-literature
UnknownEffect of the COVID-19 pandemic on surgery for indeterminate thyroid nodules (THYCOVID): a retrospective, international, multicentre, cross-sectional study.
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S-EPMC10147315 | biostudies-literature
UnknownGlobal anaesthesia practice using inguinal hernia surgery as a tracer condition: a secondary analysis of an international prospective cohort study.
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S-EPMC12519944 | 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
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
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