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TranscriptomicsTranscription profiling of human fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency vs normal fibroblast RNA
Comparison of fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency to normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sap...
ORGANISM(S): Homo sapiens 
2004-09-01 | E-MEXP-118 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation complex I deficiency vs normal fibroblast RNA
Comparison of fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation comnplex I deficiency against normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelai...
ORGANISM(S): Homo sapiens 
2004-09-01 | E-MEXP-119 | biostudies-arrayexpress
ProteomicsAbnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase-like 5 (CDKL5) gene, resulting in dysfunctional CDKL5 protein. It predominantly affects females and causes seizures in the first few months of life, ultimately resulting...
ORGANISM(S): Homo sapiens (Human) 
2025-04-28 | PXD063372 | Pride
Cdkl5  cdkl5 deficiency disorder  induced pluripotent stem cell  mitochondria  oxidative phosphorylation  proteomics. 
ProteomicsIntegrated multi-omics for rapid rare disease diagnosis on a national scale
The Australian Acute Care Genomics program provides ultra-rapid diagnostic testing to critically ill infants and children with suspected genetic conditions. Over two years, we performed whole genome sequencing (WGS) in 290 families, with average time to result of 2.9 days, and diagnostic yield of 47...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042001 | Pride
Proteomics Genomics Intensive care Transcriptomics 
UnknownChoosing wisely: the American College of Rheumatology's Top 5 list of things physicians and patients should question.
Not available
S-EPMC4106486 | 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
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
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 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
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Not available
S-EPMC4835977 | biostudies-literature
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