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Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study | Scientific Reports
Nature
The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King...
1 month ago
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Nature
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments...
22 months ago
Mono- and biallelic variant effects on disease at biobank scale
Nature
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics1. Population bottleneck events...
16 months ago
A powerful team: the family physician advocating for patients with a rare disease
Royal Australian College of General Practitioners (RACGP)
Download article. Cite this article BIBTEX REFER RIS. Background. Rare diseases are characteristically difficult to diagnose and for the majority,...
28 months ago
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Nature
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into...
23 months ago
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease
Nature
The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk...
14 months ago
Genetic variants associated with platelet count are predictive of human disease and physiological markers ...
Nature
Platelets play an important role in hemostasis and other aspects of vascular biology. We conducted a meta-analysis of platelet count GWAS...
32 months ago
DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets ...
Nature
The druggability of targets is a crucial consideration in drug target selection. Here, we adopt a stochastic semi-supervised ML framework to...
18 months ago