A/Prof Gina Ravenscroft 🇿🇦🇦🇺
@gianina_natoli
NHMRC EL2 Fellow | Honorary Patricia Kailis Fellow | Mum,scientist,wife (Alphabetical Order) | Rare diseases & neurogenetics.
ravenscroftlab.com
ID: 2867383969
https://www.perkins.org.au/our-research/divisions/molecular-medicine-and-ageing/neurogenetic-disease 20-10-2014 14:39:28
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LOF variants in junctophilin 1 (JPH1) cause a congenital #myopathy with prominent facial involvement, congrats to lead authors Dr Mridul Johari & Ana Topf from Harry Perkins Institute & JWMDRC. Thanks to collaborators, the patients and their families. #mendeliome jmg.bmj.com/content/jmedge…