de Ruiter, Lodewijk R.J.
12  results:
Search for persons X
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5

Project Y:The search for clues explaining phenotype variabi..:

Loonstra, Floor C ; De Ruiter, Lodewijk R.J ; Doesburg, Djoeke...
Loonstra , F C , De Ruiter , L R J , Doesburg , D , Lam , K H , Van Lierop , Z Y G J , Moraal , B , Strijbis , E M M , Killestein , J & Uitdehaag , B M J 2021 , ' Project Y : The search for clues explaining phenotype variability in MS ' , Multiple Sclerosis and Related Disorders . https://doi.org/10.1016/j.msard.2021.103337.  , 2021
 
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10

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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11

A mutation creating an upstream translation initiation codo..:

Ferdinandusse, Sacha ; te Brinke, Heleen ; Ruiter, Jos P. N...
Ferdinandusse , S , te Brinke , H , Ruiter , J P N , Haasjes , J , Oostheim , W , van Lenthe , H , IJlst , L , Ebberink , M S , Wanders , R J A , Vaz , F M & Waterham , H R 2019 , ' A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency ' , Human Mutation , vol. 40 , no. 10 , pp. 1899-1904 . https://doi.org/10.1002/humu.23839.  , 2019
 
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