Spillmann, Rebecca C
37  Ergebnisse:
Personensuche X
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1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
 
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Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, Joery ; de Boer, Elke ; Voisin, N...
den Hoed , J , de Boer , E , Voisin , N , Dingemans , A , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S , Banka , S , Bena , F , Ben-Zeev , B , Bonagura , V , Bruel , A , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistienė , L , Coon , H , study , T DDD , Délot , E C , Démurger , F , Denommé-Pichon , A-S , Depienne , C , Donnai , D , Dyment , D A , Elpeleg , O , Faivre , L , Gilissen , C , Granger , L , Haber , B , Hachiya , Y , Abedi , Y H , Hanebeck , J , Hehir-Kwa , J Y , Horist , B , Itai , T , Jackson , A , Jewell , R , Jones , K L , Joss , S , Kashii , H , Kato , M , Kattentidt-Mouravieva , A A , Kok , F , Kotzaeridou , U , Krishnamurthy , V , Kučinskas , V , Kuechler , A , Lavillaureix , A , Liu , P , Manwaring , L , Matsumoto , N , Mazel , B , McWalter , K , Meiner , V , Mikati , M A , Miyatake , S , Mizuguchi , T , Moey , L H , Mohammed , S , Mor-Shaked , H , Mountford , H , Newbury-Ecob , R , Odent , S , Orec , L ,....  , 2020
 
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12

An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A V , Chong , K , Martin , N , Brault , J , Brokamp , E , Toro , C , Gahl , W A , Macnamara , E F , Wolfe , L A , Alejandro , M E , Azamian , M S , Bacino , C A , Balasubramanyam , A , Burrage , L C , Chao , H T , Clark , G D , Craigen , W J , Dai , H , Dhar , S U , Emrick , L T , Goldman , A M , Hanchard , N A , Jamal , F , Karaviti , L , Lalani , S R , Lee , B H , Lewis , R A , Marom , R , Moretti , P , Murdock , D R , Nicholas , S K , Orengo , J P , Posey , J E , Potocki , L , Rosenfeld , J A , Samson , S L , Scott , D A , Tran , A A , Vogel , T P , Wangler , M F , Yamamoto , S , Eng , C M , Liu , P , Ward , P A , Behrens , E , Deardorff , M , Falk , M ,....  , 2020
 
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13

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Grip , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , Network , U D , McMillan , H J , Boycott , K M , Campeau , P M & Care4Rare Canada Consortium 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278.  , 2020
 
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14

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Johnstone , D L , Nguyen , T T M , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H J , Boycott , K M & Campeau , P M 2020 , ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants inPIGQ : Report of seven new subjects and review of the literature ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1321-1332 . https://doi.org/10.1002/jimd.12278.  , 2020
 
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