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Reconstruction of the respiratory signal through ECG and wrist accelerometer data

Nature
In this paper, we demonstrate that long-term nocturnal acceleration measurements from the wrist yield significantly better respiration proxies than four...
hace 52 meses

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores

Wiley Online Library
Routine genetic testing in hypercholesterolemia patients reveals a causative monogenic variant in less than 50% of affected individuals.
hace 18 meses

EDS ECHO Event Series: Rarer Types of Ehlers-Danlos Syndromes

The Ehlers Danlos Society
EDS ECHO Event Series: Rarer Types of Ehlers-Danlos Syndromes. May 29, 2021. Scientific Chairs: Johannes Zschocke, Innsbruck and Fransiska Malfait, Ghent.
hace 50 meses

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency

Nature
Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene...
hace 3 meses

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL-C and LPA genetic scores

Wiley Online Library
Routine genetic testing in hypercholesterolemia patients reveals a causative monogenic variant in less than 50% of affected individuals.
hace 18 meses

Phospholipid Acyl Chain Diversity Controls the Tissue-Specific Assembly of Mitochondrial Cardiolipins

ScienceDirect.com
We demonstrate that not transcriptional regulation, but cellular phospholipid compositions are closely linked to the tissue specificity of CL patterns.
hace 57 meses

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics

Wiley Online Library
Targeted next-generation-sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics.
hace 92 meses

The Ehlers–Danlos syndromes, rare types

Wiley Online Library
Dr. Angela F. Brady, F.R.C.P., Ph.D., is a Consultant Clinical Geneticist at the North West Thames Regional Genetics Service, London and she...
hace 93 meses

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome

Frontiers
We report extensive functional studies of 16 C1R variants associated with pEDS by in-vitro overexpression studies in HEK293T cells followed by western blot.
hace 10 meses

Long- and short-term fluctuations compared for several organ systems across sleep stages

Frontiers
In this paper we compared the fluctuations of heart rate, pulse rate, respiration frequency, and pulse transit times as well as EEG alpha-band power on time...
hace 6 meses