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#22q11
The Medical SHO
admit_medics
You’re the medical registrar on-call and receive a call from the psychiatry SHO as a patient has an adjusted calcium of 1.76. This is a 31 year old male currently
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Jacob Vorstman
Jacob_Vorstman
1/X https://rdcu.be/b992F We are very excited about our study appearing today in @NatureMedicine. It is a genotype-phenotype study in the largest sample of individuals with #22q11.2 deletion syndrome reported to
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Kimberley Kendall
DrKKendall
This is a fantastic paperhttps://ja.ma/39krtFO Martin et al examined for 92,455 individuals:- exome sequencing data for 31 pathogenic, recurrent CNVs,- electronic health record data (EHR) 0.8% (n = 708) had
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Veera M. Rajagopal
doctorveera
Four important papers published in 2020 beautifully demonstrated in what ways PRS will be used in clinic in the near future. A thread. 1. PRS is often seen as a
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