학술논문

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(예 : 2010-2015)
'학술논문' 에서 검색결과 9건 | 목록 1~10
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van de Putte , R , Dworschak , GC , Brosens , E , Reutter , HM , Marcelis , CL , Acuna-Hidalgo , R , Kurtas , NE , Steehouwer , M , Dunwoodie , SL , Schmiedeke , E , Marzheuser , S , Schwarzer , N , Brooks , A , de Klein , A , Sloots , C E J , Tibboel , D , Brisighelli , G , Morandi , A , Bedeschi , MF , Bates , MD , Levitt , MA , de la Pena , A , de Blaauw , I , Roeleveld , N , Brunner , HG , de Rooij , I & Hoischen , A 2020 , ' A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies ' , Frontiers in Pediatrics , vol. 8 , 310 .
Electronic Resource
van de Putte , R , Wijers , CHW , Reutter , H , Vermeulen , SH , Marcelis , CLM , Brosens , E , Broens , PMA , Homberg , M , Ludwig , M , Jenetzky , E , Zwink , N , Sloots , C E J , de Klein , A , Brooks , A , Hofstra , R , Holsink , SAC , van der Zanden , LFM , Galesloot , TE , Tam , PKH , Steehouwer , M , Acuna-Hidalgo , R , van de Vorst , M , Kiemeney , LA , Garcia-Barcelo , MM , de Blaauw , I , Brunner , HG , Roeleveld , N & de Rooij , I 2019 , ' Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations ' , PLoS One (online) , vol. 14 , no. 5 , e0217477 .
Electronic Resource
Acuna-Hidalgo , R , Deriziotis , P , Steehouwer , M , Gilissen , C , Graham , SA , van Dam , S , Hoover-Fong , J , Telegrafi , AB , Destree , A , Smigiel , R , Lambie , LA , Kayserili , H , Altunoglu , U , Lapi , E , Uzielli , ML , Aracena , M , Nur , BG , Mihci , E , Moreira , LMA , Ferreira , VB , Horovitz , D D G , da Rocha , KM , Jezela-Stanek , A , Brooks , A , Reutter , H , Cohen , JS , Fatemi , A , Smitka , M , Grebe , TA , Di Donato , N , Deshpande , C , Vandersteen , A , Lourenco , CM , Dufke , A , Rossier , E , Andre , G , Baumer , A , Spencer , C , McGaughran , J , Franke , L , Veltman , JA , de Vries , BBA , Schinzel , A , Fisher , SE , Hoischen , A & van Bon , BW 2017 , ' Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies ' , PLoS Genetics (online) , vol. 13 , no. 3 , e1006683 .
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[AR] Steehouwer, M
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