Sachdev, Rani K
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Epileptic encephalopathy caused by ARV1 deficiency:refineme..:

Salian, Smrithi ; Scala, Marcello ; Nguyen, Thi Tuyet Mai...
Salian , S , Scala , M , Nguyen , T T M , Severino , M , Accogli , A , Amadori , E , Torella , A , Pinelli , M , Hudson , B , Boothe , M , Hurst , A , Ben-Omran , T , Larsen , M J , Fagerberg , C R , Sperling , L , Miceikaite , I , Herissant , L , Doco-Fenzy , M , Jennesson , M , Nigro , V , Striano , P , Minetti , C , Sachdev , R K , Palmer , E E , Capra , V & Campeau , P M 2021 , ' Epileptic encephalopathy caused by ARV1 deficiency : refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins ' , Clinical Genetics , vol. 100 , no. 5 , pp. 607-614 . https://doi.org/10.1111/cge.14033.  , 2021
 
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Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E ; Pusch, Michael ; Picollo, Alessandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41380-022-01852-9.  , 2023
 
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