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Bi-allelic LoF variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever & infantile spasms, indicating significance of RalA pathway in neuronal function & brain development.
@AJHGNewshttps://hubs.ly/H0mTTvp0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
emedgene proslijedio/la je Tweet
NHGRI to Award $14.3M in Funding for Mendelian Genomics Centershttps://www.genomeweb.com/sequencing/nhgri-award-143m-funding-mendelian-genomics-centers?utm_source=addthis_shares#.XjnigQU3ulc.twitter …
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emedgene proslijedio/la je Tweet
About 5-10% of all cancer is hereditary. Learn how a
#CGC can help explain hereditary cancer and assess your risk.#FindaCGC today.#WorldCancerDay
https://bit.ly/2s0h3qq pic.twitter.com/6NO9EKICLb
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Early returns from era of precision medicine: despite notable success in precision oncology, its effect on patient care is modest. Offering quality care at appropriate price is the main challenge to improve population health.
@Cutler_econ@JAMAHealthForumhttps://hubs.ly/H0mT17-0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Exome sequencing has a diagnostic utility to determine fetal structural anomalies. In current study, ES provided a positive-definitive or positive-probable diagnosis in 21/102 fetuses & reported medically actionable findings to the parents.
@GIMJournalhttps://hubs.ly/H0mSNfz0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Researchers identify circulating cell‐free respiratory competent mitochondria in blood. It will be interesting to know the role of these circulating units in cell signaling & early detection & prognosis of various diseases.
@FASEBJournalhttps://hubs.ly/H0mSNGK0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
emedgene proslijedio/la je Tweet
"This novel approach has the potential to provide significant benefit on top of currently available therapies." New therapy sotatercept shows promise in a developing drug trial that looks to treat
#raredisease pulmonary arterial hypertension (PAH)."http://ow.ly/vUFe50yaDPSHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
A multi-omics approach to construct molQTL map of cell types directly involved in osteoarthritis. Finds likely effector genes for osteoarthritis-associated genetic signals.
@SteinbergJulia@EleZeggini@futurenat@biorxivpreprinthttps://hubs.ly/H0mRN1C0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
An insightful study by
@CharisEngMDPhD@LalDennis@NeupertLm@CancerMusketeer & others, showcasing association of copy number variations with specific phenotypes (e.g, ASD/developmental delay &#/or cancer) in patients carrying germline#PTEN mutations.https://hubs.ly/H0mRSq70Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
BAZ2B haploinsufficiency may lead to neurodevelopmental disorder characterized by developmental delay, intellectual disability and autism spectrum disorder.
@WileyGeneticshttps://hubs.ly/H0mRCYD0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
emedgene proslijedio/la je Tweet
2015 paper showing how a Chinese bat
#Coronavirus recombined with a SARS-CoV can use ACE2 to efficiently enter human airway cells and replicate, suggesting “a potential risk of SARS-CoV re-emergence from viruses currently circulating in bat populations.”http://go.nature.com/2RPAm3fPrikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Analysis of de novo mutations across 1,465 trios from diverse populations find no significant differences in DNM rate among Europeans, Africans & Latinos, however, reveal significant reductions in Amish individuals.
@PNASNewshttps://hubs.ly/H0mQB4s0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
The
#Exposome & health: an interesting paper discussing how exposures to synthetic chemicals, dietary constituents, psychosocial stressors & physical factors affect biological systems & contribute to disease manifestations.@sciencemagazinehttps://hubs.ly/H0mQB440Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Reappraisal of genes reported to cause congenital Long QT syndrome: Gollob et al assessed 17 gens associated with LQTS and found that more than half (9 genes) of these genes have limited or disputed evidence to support their disease causation.
@CircAHA https://hubs.ly/H0mQwll0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
#BreakingGenes: Mobile insertion elements, mtRNA interpretation, the ‘exposome’ and more. 2 weeks of research in 2 minutes#goshort.@NatureRevGenet@NatureMedicine@NatureComms@GIMJournal@NEJM@AJHGNews@PLOS@NCBI_Clinical@PNASNews https://hubs.ly/H0mPH5J0 pic.twitter.com/yRQ8PEaYM8
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A versatile & precise genome editing method developed by
@davidrliu & team. The tool can directly writes the edit into a specified DNA using a Cas9 nickase fused to RT & could correct ~ 89% of known genetic variants associated with human diseases.@naturehttps://hubs.ly/H0mPhJW0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Analysis of current AI diagnostic field showed that < 0·1% (14 of 20 000) studies were of sufficient methodological quality for clinical implementation. Diversity & data sharing will be critical to improve accuracy of AI-based diagnosis.
@LancetDigitalH https://hubs.ly/H0mNGWq0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Towards a comprehensive catalogue to understand role of
#enhancers. This review provides a deeper look into emerging technologies for discovering, characterizing & validating human enhancers at scale.@MollyGasp Jacob Tome@JShendure@NatureRevGenethttps://hubs.ly/H0mNJB80Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Genome-wide rare variant analysis for thousands of phenotypes in >70,000 exomes from
@uk_biobank &@HealthyNV cohorts. Singletons contributed significantly in identification of unique associations.@ETCirulli@my_helix@DRIScience@NatureCommshttps://hubs.ly/H0mNHB80Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Lentiviral
#GeneTherapy can be an effective & safe approach for X-linked chronic granulomatous disease. The therapy showed promising outcomes in six of the nine severely affected patients.@NatureMedicinehttps://hubs.ly/H0mMjpr0Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi
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