Lisa

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Lisa

Lisa

@lisapavinato

Università della Svizzera Italiana, CH | PhD in Medical Genetics | Scientist loving neurogenetics | Passionate for travelling

Bellinzona, Switzerland Katılım Haziran 2020
133 Takip Edilen79 Takipçiler
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Mushtaq Bilal, PhD
Mushtaq Bilal, PhD@MushtaqBilalPhD·
This is bad news. This is very bad news. The US government has stopped the funding of PubMed, the most comprehensive database of biomedical literature. Why would you do this? This database it literally a matter of life and death.
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Nature Portfolio
Nature Portfolio@NaturePortfolio·
A paper in @Nature presents a new artificial intelligence model that can predict how a person’s health might change over their lifetime. This tool could help doctors and health planners to better understand and prepare for personalized medical needs. go.nature.com/4mFzPfz
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Derek Thompson
Derek Thompson@DKThomp·
Yes. Writing is not a second thing that happens after thinking. The act of writing is an act of thinking. Writing *is* thinking. Students, academics, and anyone else who outsources their writing to LLMs will find their screens full of words and their minds emptied of thought.
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Lisa
Lisa@lisapavinato·
@eaglelex_eth @levelsio you are completely wrong. Each region has its own rules and we have to respect them!
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eaglelex
eaglelex@eaglelex_eth·
@levelsio Bro no Italian regulations exist on the matter. It’s just tactics to avoid yankees doing a 1000% in electricity consumption. Don’t get fooled
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@levelsio
@levelsio@levelsio·
Europe is cooked
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Lisa
Lisa@lisapavinato·
🌟Finally out! 🧬One year ago we linked RPH3A gene to a #neurodevelopmental disorder. Now, Barzasi and team showed some variants we previously described are causing dysfunction of pre- and post- glutamatergic synapse! Have a look #citeas" target="_blank" rel="nofollow noopener">nature.com/articles/s4159…
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Lisa
Lisa@lisapavinato·
We need to stop this never-ending history of not accessible papers. Science needs to be shared, and we should find a solution. How can a paper from *1993* still not being accessible?!! #OpenScience
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Lisa
Lisa@lisapavinato·
❓How does a cell become malignant? 🌟Several tightly regulated factors are needed to lead the cell toward a state of ‘oncogenic competence’. 🔖In this Opinion, we highlight the most updated findings about the mechanisms behind oncogenic competence. ➡️authors.elsevier.com/c/1kW698Z12ybW…
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Lisa@lisapavinato·
chapter about the role of CAPRIN1 gene in neurological conditions: Handbook of the Biology and Pathology of Mental Disorders Chapter: Neurogenetic Disorders and CAPRIN1 Curious to read it? Let's have a look here: lnkd.in/dcztYgNX (continue👇)
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Lisa
Lisa@lisapavinato·
Mom, I published a book! 📚 When I was a child I loved reading, and I wanted to become a writer✍ Who knew I was destined to write for work...not books, but scientific stuff! However, my name is finally also in a book, as we have been invited to write a (continue👇)
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Lisa
Lisa@lisapavinato·
of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS) featuring clinical characteristics not fully aligning with RSTS1 or RSTS2. Have a look here: lnkd.in/dimVaVXi #EP300 #RSTS
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Lisa
Lisa@lisapavinato·
previously defined as of uncertain significance was actually pathogenic for our patient, causing three-dimensional alteration and skipping of exon 20. Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification (cont.👇)
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Lisa
Lisa@lisapavinato·
Our last report is out today! 💥 Who works in the field of neurodevelopmental disorders knows how difficult may be to understand genomic data results, especially when the clinical presentation is different than the expected one. Here, we show how a EP300 variant (continue👇)
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