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Reconstruction of the respiratory signal through ECG and wrist accelerometer data
Nature
Respiratory rate and changes in respiratory activity provide important markers of health and fitness. Assessing the breathing signal without...
hace 51 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 17 meses
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome
Frontiers
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal dominant disorder characterized by early-onset periodontitis leading to premature...
hace 21 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 49 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 17 meses
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency | International Journal of Obesity
Nature
Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene...
hace 2 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 92 meses
Long- and short-term fluctuations compared for several organ systems across sleep stages
Frontiers
Some details of cardiovascular and cardio-respiratory regulation and their changes during different sleep stages remain still unknown.
hace 5 meses
Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background
Frontiers
Severe aplastic anemia (SAA) is a life-threatening bone marrow failure syndrome whose development can be triggered by environmental,...
hace 4 meses
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides
Wiley Online Library
Our analysis of the largest number (n = 91) of noncanonical 3′ splice site mutations found in a single gene by using an unbiased RNA-based...
hace 57 meses