Top Tweets for #PPFIBP1
RT @platzer_k: 🚨 Our #OpenAccess 📰 on #PPFIBP1 as an AR #MorbidGene for a NDD w/ epilepsy, microcephaly & periventricular calcifications is 🌍 @AJHGNews @DiseaseGenes
🤝 @aexbrown @RamiJamra @lemke_johannes @alkuraya @jogleeson_ucsd @DagmarWieczorek … https://t.co/m1uI3yetei
🚨 New preprint 🚨 We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. 👇
🚨 Our #OpenAccess 📰 on #PPFIBP1 as an AR #MorbidGene for a NDD w/ epilepsy, microcephaly & periventricular calcifications is 🌍 @AJHGNews @DiseaseGenes
🤝 @aexbrown @RamiJamra @lemke_johannes @alkuraya @jogleeson_ucsd @DagmarWieczorek @DrAbdullahSO 👇
https://t.co/gjPhe1432I
🚨 New preprint 🚨 We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. 👇
Exiting paper led by our talented colleaguest @platzer_k, @lemke_johannes, @RamiJamra from Leipzig and others👍They identified #PPFIBP1 as a cause of #neurodevelopment impairment,#microcephaly and #epilepsy. And check out their list of #MorbidGenes. @CheckOrphan
@rarediseaseuk
🚨 New preprint 🚨 We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. 👇
🚨 New preprint 🚨 We establish #PPFIBP1 as a novel #MorbidGenes. Bi-allelic LoF variants cause a spectrum of severe ID, microcephaly, #epilepsy and periventricular calcifications. 👇
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications https://t.co/ykt0MCVMjI #medRxiv
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