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Prikvačeni tweet
Benjamin Orion Kasson. Every day of your short life, you have made mine so much richer. When you are gone, you will leave a void in my heart so vast it can hold the entire universe. I love you to the moon and back kiddo, with every fiber of my being.pic.twitter.com/w5sPd0WOoE
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Lynn Kamerlin proslijedio/la je Tweet
Spectacular female
#compchem-ists are a-plenty. Let's nominate them!#WomenInSTEM#WomenInSciencehttps://twitter.com/cenmag/status/1222587770037788672 …
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Big congratulations to Marina Corbella for being awarded an MSCA Individual Fellowship to continue work in our group, in collaboration with Rafael Guimaraes da Silva at the University of St. Andrews.
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Worth thinking about for anyone looking at protein variants, that the super lethal DYNCH21 variant I carry involves a simple R-->Q substitution in the central ATPase subunit of the IFT dynein-2 complex. It takes very little to be totally lethal...
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Lynn Kamerlin proslijedio/la je Tweet
Did you know? Rare Disease Day is a global awareness raising campaign promoting equity for all people living with a rare disease. Download and edit
#RareDiseaseDay infographics from http://ow.ly/Ge5J50y8M7Q . Share them to spread the word about Rare Disease Day on 29 February!pic.twitter.com/eSTs72ARRM
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Thank you! I am actually just raising awareness, as part of my general campaigning for
#RareDiseaseDay 2020Prikaži ovu nitHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
You can fine out more about Jeune Syndrome and SRP3 here https://rarediseases.info.nih.gov/diseases/4835/short-rib-polydactyly-syndrome-type-3 … and here https://ghr.nlm.nih.gov/gene/DYNC2H1 . Also the Jeune syndrome foundation: https://www.jeunes.org.uk/
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It is not even known how frequently SRPIII occurs. It's more "common" and "less fatal" sibling, Jeune's syndrome (~70% fatality rate), affects between 1 in 100,000-130,000 babies. I have only found my variant in one PhD thesis from 08/2019, it's that rare. 3/n
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SRPIII causes short-limb dwarfism, coupled with postaxial polydactyly, and asphyxiating thoracic dysplasia as main symptoms. It can also cause cardiovascular defects, renal agenesis, and other unpleasant side problems. It is always fatal in the perinatal period. 2/n
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My husband and I are both carriers of compound heterozygous variants in the DYNC2H1 gene, which is responsible for ensuring normal cartilage and bone development. Our variants when brought together, cause a lethal skeletal dysplasia, short rib polydactyly type 3 (SRP III). 1/n
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Lynn Kamerlin proslijedio/la je Tweet
Twice as many foreign academics are in temporary positions in Swedenhttps://www.universityworldnews.com/post.php?story=20200129065937461 …
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Lynn Kamerlin proslijedio/la je Tweet
February is Turner Syndrome Awareness Month!
#TSAwareness#TSGA#TurnerSyndromeGlobalAlliance#VIBpic.twitter.com/r9oDIvxZdq
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Rare diseases may be rare individually, but they cumulatively affect many more people than you might know. Did you know there are 300 million of us living with them worldwide.
#wearethe300million#RareDiseaseDay#raiseawarenesspic.twitter.com/U0REwoXbPg
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Lynn Kamerlin proslijedio/la je Tweet
Out now! Download the official poster for
#RareDiseaseDay 2020 now available via http://rarediseaseday.org/downloads . Share it today to show your support for the rare disease community!pic.twitter.com/1SJigTalxs
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Lynn Kamerlin proslijedio/la je Tweet
Yet to see the
#RareDiseaseDay 2017 video? Watch, enjoy and share it to become a part of the international campaign! Be part of the change!pic.twitter.com/uVMY7ro21nHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Lynn Kamerlin proslijedio/la je TweetHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi
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29th of February is Rare Diseases Day. As part of this, during February, I will be sharing information about various rare diseases that I either have myself, or that had affected Benji and Laila.
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Lynn Kamerlin proslijedio/la je Tweet
I think this kind of patient involvement with doctors can be very important, especially with rare disorders like Kallmann syndrome, which might not be encountered often by some medical professionals. Presentations like this can help doctors & fellow patients.
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Lynn Kamerlin proslijedio/la je Tweet
http://delayed-puberty.com/delayed-puberty-kallmann-syndrome-news/2020/2/1/talk-given-by-a-ks-patient-to-a-group-of-paediatric-doctors-about-his-experiences-with-the-diagnosis-and-treatment-of-kallmann-syndrome … A talk given by a KS friend of mine to a group of doctors, talking about his experiences with Kallmann syndrome. An honest and frank account which I think a lot of fellow KS / CHH patients can relate to.
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Lynn Kamerlin proslijedio/la je Tweet
#DeepScaffold: A Comprehensive Tool for Scaffold-Based De Novo#Drug Discovery Using Deep Learning https://pubs.acs.org/doi/10.1021/acs.jcim.9b00727 …#Current_issue#Chemical_informationpic.twitter.com/TH7NcHtU3Y
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