Jansen, Jos C ; Cirak, Sebahattin ; van Scherpenzeel, Monique...
Jansen , J C , Cirak , S , van Scherpenzeel , M , Timal , S , Reunert , J , Rust , S , Perez , B , Vicogne , D , Krawitz , P , Wada , Y , Ashikov , A , Perez-Cerda , C , Medrano , C , Arnoldy , A , Hoischen , A , Huijben , K , Steenbergen , G , Quelhas , D , Diogo , L , Rymen , D , Jaeken , J , Guffon , N , Cheillan , D , van den Heuvel , L P , Maeda , Y , Kaiser , O , Schara , U , Gerner , P , van den Boogert , M A W , Holleboom , A G , Nassogne , M-C , Sokal , E , Salomon , J , van den Bogaart , G , Drenth , J P H , Huynen , M A , Veltman , J A , Wevers , R A , Morava , E , Matthijs , G , Foulquier , F , Marquardt , T & Lefeber , D J 2016 , ' CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation ' , American Journal of Human Genetics , vol. 98 , no. 2 , pp. 310-321 . https://doi.org/10.1016/j.ajhg.2015.12.010.  , 2016

Wills, Edgar S ; Cnossen, Wybrich R ; Veltman, Joris A...
Wills , E S , Cnossen , W R , Veltman , J A , Woestenenk , R , Steehouwer , M , Salomon , J , te Morsche , R H M , Huch , M , Hehir-Kwa , J Y , Banning , M J , Pfundt , R , Roepman , R , Hoischen , A & Drenth , J P H 2016 , ' Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes ' , European Journal of Human Genetics , vol. 24 , no. 12 , pp. 1707-1714 . https://doi.org/10.1038/ejhg.2016.97.  , 2016

Wills, Edgar S ; Cnossen, Wybrich R ; Veltman, Joris A...
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Jansen, Jos C ; Timal, Sharita ; van Scherpenzeel, Monique...
Jansen , J C , Timal , S , van Scherpenzeel , M , Michelakakis , H , Vicogne , D , Ashikov , A , Moraitou , M , Hoischen , A , Huijben , K , Steenbergen , G , van den Boogert , M A W , Porta , F , Calvo , P L , Mavrikou , M , Cenacchi , G , van den Bogaart , G , Salomon , J , Holleboom , A G , Rodenburg , R J , Drenth , J P H , Huynen , M A , Wevers , R A , Morava , E , Foulquier , F , Veltman , J A & Lefeber , D J 2016 , ' TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation ' , American Journal of Human Genetics , vol. 98 , no. 2 , pp. 322-330 . https://doi.org/10.1016/j.ajhg.2015.12.011.  , 2016