Zilmer, Monica ;
Edmondson, Andrew C ;
Khetarpal, Sumeet A...
Zilmer , M , Edmondson , A C , Khetarpal , S A , Alesi , V , Zaki , M S , Rostasy , K , Madsen , C G , Lepri , F R , Sinibaldi , L , Cusmai , R , Novelli , A , Issa , M Y , Fenger , C D , Jamra , R A , Reutter , H , Briuglia , S , Agolini , E , Hansen , L , Petäjä-Repo , U E , Hintze , J , Raymond , K M , Liedtke , K , Stanley , V , Musaev , D , Gleeson , J G , Vitali , C , O'Brien , W T , Gardella , E , Rubboli , G , Rader , D J , Schjoldager , K T & Møller , R S 2020 , ' Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function ' , Brain , vol. 143 , no. 4 , pp. 1114-1126 . https://doi.org/10.1093/brain/awaa063.
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2020
