Adams, Darius J.
50  results:
Search for persons X
?
 
?
10

International best practice for the evaluation of responsiv..:

Muntau, Ania C ; Adams, Darius J ; Belanger-Quintana, Amaya...
https://research.rug.nl/en/publications/933880d8-2646-4e4d-9aee-cd63233e5fe0.  , 2019
 
?
11

Disruptive variants of CSDE1 associate with autism and inte..:

Guo, Hui ; Li, Ying ; Shen, Lu...
Guo , H , Li , Y , Shen , L , Wang , T , Jia , X , Liu , L , Xu , T , Ou , M , Hoekzema , K , Wu , H , Gillentine , M A , Liu , C , Ni , H , Peng , P , Zhao , R , Zhang , Y , Phornphutkul , C , Stegmann , A P A , Prada , C E , Hopkin , R J , Shieh , J T , McWalter , K , Monaghan , K G , van Hasselt , P M , van Gassen , K , Bai , T , Long , M , Han , L , Quan , Y , Chen , M , Zhang , Y , Li , K , Zhang , Q , Tan , J , Zhu , T , Liu , Y , Pang , N , Peng , J , Scott , D A , Lalani , S R , Azamian , M , Mancini , G M S , Adams , D J , Kvarnung , M , Lindstrand , A , Nordgren , A , Pevsner , J , Osei-Owusu , I A , Romano , C , Calabrese , G , Galesi , O , Gecz , J , Haan , E , Ranells , J , Racobaldo , M , Nordenskjold , M , Madan-Khetarpal , S , Sebastian , J , Ball , S , Zou , X , Zhao , J , Hu , Z , Xia , F , Liu , P , Rosenfeld , J A , de Vries , B B A , Bernier , R A , Xu , Z-Q D , Li , H , Xie , W , Hufnagel , R B , Eichler , E E & Xia , K 2019 , ' Disruptive variant....  , 2019
 
?
13

GRIN2B encephalopathy:novel findings on phenotype, variant ..:

Platzer, Konrad ; Yuan, Hongjie ; Schütz, Hannah...
Platzer , K , Yuan , H , Schütz , H , Winschel , A , Chen , W , Hu , C , Kusumoto , H , Heyne , H O , Helbig , K L , Tang , S , Willing , M C , Tinkle , B T , Adams , D J , Depienne , C , Keren , B , Mignot , C , Frengen , E , Strømme , P , Biskup , S , Döcker , D , Strom , T M , Mefford , H C , Myers , C T , Muir , A M , LaCroix , A J , Sadleir , L G , Scheffer , I E , Brilstra , E , van Haelst , M M , van der Smagt , J J , Bok , L A , Møller , R S , Jensen , U B , Millichap , J J , Berg , A T , Goldberg , E M , De Bie , I , Fox , S , Major , P , Jones , J R , Zackai , E H , Abou Jamra , R , Rolfs , A , Leventer , R J , Lawson , J A , Roscioli , T , Jansen , F E , Ranza , E , Korff , C M , Lehesjoki , A-E , Courage , C , Linnankivi , T , Smith , D R , Stanley , C , Mintz , M , McKnight , D , Decker , A , Tan , W-H , Tarnopolsky , M A , Brady , L I , Wolff , M , Dondit , L , Pedro , H F , Parisotto , S E , Jones , K L , Patel , A D , Franz , D N , Vanzo....  , 2017
 
?
 
?
15

ATP6AP1 deficiency causes an immunodeficiency with hepatopa..:

Jansen, Eric J. R ; Timal, Sharita ; Ryan, Margret...
Jansen , E J R , Timal , S , Ryan , M , Ashikov , A , van Scherpenzeel , M , Graham , L A , Mandel , H , Hoischen , A , Iancu , T C , Raymond , K , Steenbergen , G , Gilissen , C , Huijben , K , van Bakel , N H M , Maeda , Y , Rodenburg , R J , Adamowicz , M , Crushell , E , Koenen , H , Adams , D , Vodopiutz , J , Greber-Platzer , S , Mueller , T , Dueckers , G , Morava , E , Sykut-Cegielska , J , Martens , G J M , Wevers , R A , Niehues , T , Huynen , M A , Veltman , J A , Stevens , T H & Lefeber , D J 2016 , ' ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation ' , Nature Communications , vol. 7 , 11600 . https://doi.org/10.1038/ncomms11600.  , 2016
 
1-15