The inheritance of a novel mutation in glycogen storage disease type 1a

Dynamic preload markers to predict fluid responsiveness during and after major gastrointestinal surgery: an observational substudy of the OPTIMISE trial.

British journal of anaesthesia·2014

Patients with faecal peritonitis admitted to European intensive care units: an epidemiological survey of the GenOSept cohort.

Intensive care medicine·2013

Mortality and utilisation of critical care resources amongst high-risk surgical patients in a large NHS trust.

Anaesthesia·2008

Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.

The Journal of pathology·2007

Glucose production in the human placenta.

Placenta·2006

Peptidoglycan of Staphylococcus aureus upregulates monocyte expression of CD14, Toll-like receptor 2 (TLR2), and TLR4 in human blood: possible implications for priming of lipopolysaccharide signaling.

Infection and immunity·2005

Insights into the regulation of the HOTAIR proximal promoter.

Biochemical Society transactions·2026

Distinct functions of mammalian RAD51 paralogs in genome maintenance.

Biochemical Society transactions·2026

Glycosylation of the retina.

Biochemical Society transactions·2026

Tools to investigate class B1 GPCR conformational landscapes with cryo-EM and beyond.

Biochemical Society transactions·2026

The molecular mechanisms of crista formation: how mitochondria give themselves breathing room.

Biochemical Society transactions·2026

Propionic acidemia as a framework for understanding the impact of disturbed propionyl-CoA on histone modifications.

Biochemical Society transactions·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Science advances·2026

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

Human reproduction update·2026

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

PloS one·2026

Related Experiment Videos

The inheritance of a novel mutation in glycogen storage disease type 1a

Related Concept Videos

Dynamic preload markers to predict fluid responsiveness during and after major gastrointestinal surgery: an observational substudy of the OPTIMISE trial.

Patients with faecal peritonitis admitted to European intensive care units: an epidemiological survey of the GenOSept cohort.

Mortality and utilisation of critical care resources amongst high-risk surgical patients in a large NHS trust.

Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.

Glucose production in the human placenta.

Peptidoglycan of Staphylococcus aureus upregulates monocyte expression of CD14, Toll-like receptor 2 (TLR2), and TLR4 in human blood: possible implications for priming of lipopolysaccharide signaling.

Insights into the regulation of the HOTAIR proximal promoter.

Distinct functions of mammalian RAD51 paralogs in genome maintenance.

Glycosylation of the retina.

Tools to investigate class B1 GPCR conformational landscapes with cryo-EM and beyond.

The molecular mechanisms of crista formation: how mitochondria give themselves breathing room.

Propionic acidemia as a framework for understanding the impact of disturbed propionyl-CoA on histone modifications.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

Related Experiment Videos

The inheritance of a novel mutation in glycogen storage disease type 1a

Related Concept Videos

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