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UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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S-EPMC5294886 | biostudies-literature
UnknownA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Not available
S-EPMC5223093 | biostudies-literature
UnknownLooking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Not available
S-EPMC5851806 | biostudies-literature
UnknownDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
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S-EPMC5065681 | 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.
Not available
S-EPMC12056793 | biostudies-literature
UnknownEmpagliflozin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC10957483 | biostudies-literature
UnknownBaricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis.
Not available
S-EPMC9333998 | biostudies-literature
UnknownHigher dose corticosteroids in hospitalised COVID-19 patients requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC11872607 | biostudies-literature
UnknownHigher dose corticosteroids in patients admitted to hospital with COVID-19 who are hypoxic but not requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.
Not available
S-EPMC10156147 | biostudies-literature
UnknownMARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Not available
S-EPMC5670038 | biostudies-literature
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