Garavaglia, Barbara
137  results:
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1

Episignature analysis of moderate effects and mosaics:

Oexle, Konrad ; Zech, Michael ; Stühn, Lara G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474287/.  , 2023
 
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Adult-onset KMT2B-related dystonia:

Monfrini, Edoardo ; Ciolfi, Andrea ; Cavallieri, Francesco...
info:eu-repo/semantics/altIdentifier/pmid/36483457.  , 2022
 
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15

EIF2AK2 Missense Variants Associated with Early Onset Gener..:

Kuipers, Demy J.S ; Mandemakers, Wim ; Lu, Chin Song...
Kuipers , D J S , Mandemakers , W , Lu , C S , Olgiati , S , Breedveld , G J , Fevga , C , Tadic , V , Carecchio , M , Osterman , B , Sagi-Dain , L , Wu-Chou , Y H , Chen , C C , Chang , H C , Wu , S L , Yeh , T H , Weng , Y H , Elia , A E , Panteghini , C , Marotta , N , Pauly , M G , Kühn , A A , Volkmann , J , Lace , B , Meijer , I A , Kandaswamy , K , Quadri , M , Garavaglia , B , Lohmann , K , Bauer , P , Mencacci , N E , Lubbe , S J , Klein , C , Bertoli-Avella , A M & Bonifati , V 2021 , ' EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia ' , Annals of Neurology , vol. 89 , no. 3 , pp. 485-497 . https://doi.org/10.1002/ana.25973.  , 2021
 
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