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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 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 16 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
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
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 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
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 56 meses
Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes
Frontiers
Ehlers-Danlos syndromes (EDS) are clinically and genetically heterogeneous disorders characterized by soft connective tissue alteration like...
hace 59 meses