1
Bever, Yolande, Brüggenwirth, Hennie, Wolffenbuttel, Katja, Dessens, Arianne, Groenenberg, Irene, Knapen, Maarten, De Baere, E, Cools, M (Martine), van Ravenswaaij-Arts, CM, Sikkema-Raddatz, B, Grinten, H, Kempers, M, Rinne, T, Hersmus, Remko, Looijenga, LHJ (Leendert), Hannema, Sabine
Veröffentlicht in: Bever , Y , Brüggenwirth , H , Wolffenbuttel , K , Dessens , A , Groenenberg , I , Knapen , M , De Baere , E , Cools , M , van Ravenswaaij-Arts , CM , Sikkema-Raddatz , B , Grinten , H , Kempers , M , Rinne , T , Hersmus , R , Looijenga , LHJ & Hannema , S 2020 , ' Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development ' , Journal of Medical Genetics , vol. 57 , no. 9 , pp. 581-589 . https://doi.org/10.1136/jmedgenet-2019-106354;
2020
Veröffentlicht in: Bever , Y , Brüggenwirth , H , Wolffenbuttel , K , Dessens , A , Groenenberg , I , Knapen , M , De Baere , E , Cools , M , van Ravenswaaij-Arts , CM , Sikkema-Raddatz , B , Grinten , H , Kempers , M , Rinne , T , Hersmus , R , Looijenga , LHJ & Hannema , S 2020 , ' Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development ' , Journal of Medical Genetics , vol. 57 , no. 9 , pp. 581-589 . https://doi.org/10.1136/jmedgenet-2019-106354;
2020
2
Pierik, FH, Burdorf, Lex, Nijman, JM (Rien), Schrama, Sabine, Juttmann, RE (Rikard), Weber, RFA (Rob)
Veröffentlicht in: Pierik , FH , Burdorf , L , Nijman , JM , Schrama , S , Juttmann , RE & Weber , RFA 2002 , ' A high hypospadias rate in the Netherlands ' , Human Reproduction , vol. 17 , no. 4 , pp. 1112-1115 . < http://hdl.handle.net/1765/9880 >;
2002
Veröffentlicht in: Pierik , FH , Burdorf , L , Nijman , JM , Schrama , S , Juttmann , RE & Weber , RFA 2002 , ' A high hypospadias rate in the Netherlands ' , Human Reproduction , vol. 17 , no. 4 , pp. 1112-1115 . < http://hdl.handle.net/1765/9880 >;
2002
3
Vester, MEM, Visser, G, Wijburg, FA, van Spronsen, FJ, Williams, Monique, van Rijn, RR
Veröffentlicht in: Vester , MEM , Visser , G , Wijburg , FA , van Spronsen , FJ , Williams , M & van Rijn , RR 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6;
2016
Veröffentlicht in: Vester , MEM , Visser , G , Wijburg , FA , van Spronsen , FJ , Williams , M & van Rijn , RR 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6;
2016
4
5
Roep, BO, Schipper, R, Verduyn, W, Bruining, GJ, Schreuder, GMTh, de Vries, RRP (Rene)
Veröffentlicht in: Roep , BO , Schipper , R , Verduyn , W , Bruining , GJ , Schreuder , GMT & de Vries , RRP 1999 , ' HLA-DRB1*0403 is associated with dominant protection against IDDM in the general Dutch population and subjects with high-risk DQA1*0301-DQB1*0302/DQA1*0501-DQB1*0201 genotype ' , Tissue Antigens , vol. 54 , pp. 88-90 . https://doi.org/10.1034/j.1399-0039.1999.540110.x;
1999
Veröffentlicht in: Roep , BO , Schipper , R , Verduyn , W , Bruining , GJ , Schreuder , GMT & de Vries , RRP 1999 , ' HLA-DRB1*0403 is associated with dominant protection against IDDM in the general Dutch population and subjects with high-risk DQA1*0301-DQB1*0302/DQA1*0501-DQB1*0201 genotype ' , Tissue Antigens , vol. 54 , pp. 88-90 . https://doi.org/10.1034/j.1399-0039.1999.540110.x;
1999
6
Haijes, HA, Molema, F, Langeveld, M, Janssen, M, Bosch, A, van Spronsen, F, Mulder, MF (Margot), Verhoeven-Duif, NM, Jans, JJM, van der Ploeg, Ans, Wagenmakers, Margreet, Rubio-Gozalbo, ME, Brouwers, M, de Vries, MC, Langendonk, Janneke, Williams, Monique, van Hasselt, PM
Veröffentlicht in: Haijes , HA , Molema , F , Langeveld , M , Janssen , M , Bosch , A , van Spronsen , F , Mulder , MF , Verhoeven-Duif , NM , Jans , JJM , van der Ploeg , A , Wagenmakers , M , Rubio-Gozalbo , ME , Brouwers , M , de Vries , MC , Langendonk , J , Williams , M & van Hasselt , PM 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193;
2020
Veröffentlicht in: Haijes , HA , Molema , F , Langeveld , M , Janssen , M , Bosch , A , van Spronsen , F , Mulder , MF , Verhoeven-Duif , NM , Jans , JJM , van der Ploeg , A , Wagenmakers , M , Rubio-Gozalbo , ME , Brouwers , M , de Vries , MC , Langendonk , J , Williams , M & van Hasselt , PM 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193;
2020
7
Strijker, M., Tseng, L. A., van Avezaath, L. K., Oude Luttikhuis, M. A.M., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D.M., Lunsing, R. J.
Veröffentlicht in: Strijker , M , Tseng , L A , van Avezaath , L K , Oude Luttikhuis , M A M , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study ' , European Journal of Paediatric Neurology , vol. 33 , pp. 112-120 . https://doi.org/10.1016/j.ejpn.2021.06.001;
2021
Veröffentlicht in: Strijker , M , Tseng , L A , van Avezaath , L K , Oude Luttikhuis , M A M , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study ' , European Journal of Paediatric Neurology , vol. 33 , pp. 112-120 . https://doi.org/10.1016/j.ejpn.2021.06.001;
2021
8
van der Ploeg, Ans
Veröffentlicht in: van der Ploeg , A 2021 , ' “Building bridges”—An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands ' , Journal of Inherited Metabolic Disease , vol. 44 , no. 1 , pp. 1 . https://doi.org/10.1002/jimd.12352;
2021
Veröffentlicht in: van der Ploeg , A 2021 , ' “Building bridges”—An opportunity to connect, inspire, and innovate. SSIEM 2019 Annual Symposium in Rotterdam, The Netherlands ' , Journal of Inherited Metabolic Disease , vol. 44 , no. 1 , pp. 1 . https://doi.org/10.1002/jimd.12352;
2021
9
10
Jager, EA, Kuijpers, MM, Bosch, AM, Mulder, MF (Margot), Gozalbo, ER, Visser, G, Boersma - de Vries, M, Williams, Monique, Waterham, HR, van Spronsen, FJ, Schielen, P, Derks, TGJ
Veröffentlicht in: Jager , EA , Kuijpers , MM , Bosch , AM , Mulder , MF , Gozalbo , ER , Visser , G , Boersma - de Vries , M , Williams , M , Waterham , HR , van Spronsen , FJ , Schielen , P & Derks , TGJ 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
Veröffentlicht in: Jager , EA , Kuijpers , MM , Bosch , AM , Mulder , MF , Gozalbo , ER , Visser , G , Boersma - de Vries , M , Williams , M , Waterham , HR , van Spronsen , FJ , Schielen , P & Derks , TGJ 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019