Marwan Shinawi, M.D.
@marshinawi
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I am a clinical genetics and genomics specialist. I enjoy arts and photography. Also have interest in human rights and (some) politics. Opinions my own.
Joined March 2010
RT @DiseaseGenes: RT @FranMartinezGr: Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial ges…
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RT @shahida_moosa: #NewDiseaseGene ZFX --> X-linked NDD with recognizable facial gestalt. Congratulations, Marwan @marshinawi and the entir…
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RT @AJHGNews: 📢New from @marshinawi & colleagues 📰Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurren…
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RT @AJHGNews: 📢New @AJHGNews 📰An autosomal dominant childhood-onset disorder associated with pathogenic variants in VCP 🧑🤝🧑@marshinawi &…
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generosity and volunteering of many medical professionals (genetics, neurology, ophthalmology, psychology), and the endless support of @MedgenW and @PattiDickson. @CureDessh
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RT @NobelPrize: “Ten years ago I was kicked out and forced to retire.” Our new medicine laureate Katalin Karikó (@kkariko) told us how mu…
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RT @WashURareCare: Our second annual DESSH clinic was in full swing on September 28th and 29th, 2023. Dr. Shinawi welcomed patients from Ma…
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RT @John_H_McD: With colleagues from across the country we've developed a series of 'just in time' resources to support pharmacogenetic gui…
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RT @pattymondello: Physician Scientists have dropped from 4.5% to 1.5% today. Main causes: fundings, clinical demands, disparities in sala…
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RT @NEJM: Ubiquitin-mediated protein degradation: A process through which proteins are tagged with ubiquitin, targeting them to the proteas…
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RT @MantegazzaMassi: REVIEW Here our recent overview on “Voltage Gated Sodium Channels in genetic epilepsy”. I hope you will find it useful…
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RT @MedgenW: Congrats Rodrigo, @KerashviliNino, @CatdogGenes, Cassandra Pruitt, and @GrangeDk ! @WUSTLPeds @WashUNeurology
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RT @JIMD_Editors: The determination of the functional impact of a VUS is one of the major bottlenecks in the diagnostic workflow of inherit…
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Variant STAT4 and Treatment of an Autoinflammatory Syndrome | NEJM
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RT @JIMD_Editors: Check out the report online from: Luisa Averdunk, Eva Thimm, Dirk Klee, Tobias Haack, and Felix Distelmaier https://t.co/…
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@JIMD_Editors Interesting! A few years ago, we reported adult-onset dystonia in a patient with classic homocystinuria:
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