1
Stikkelbroeck, Nike M.M.L., Hoefsloot, Lies H., De Wijs, Ilse J., Otten, Barto J., Hermus, Ad R.M.M., Sistermans, Erik A.
Veröffentlicht in: Stikkelbroeck , N M M L , Hoefsloot , L H , De Wijs , I J , Otten , B J , Hermus , A R M M & Sistermans , E A 2003 , ' CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands : Six novel mutations and a specific cluster of four mutations ' , Journal of Clinical Endocrinology and Metabolism , vol. 88 , no. 8 , pp. 3852-3859 . https://doi.org/10.1210/jc.2002-021681;
2003
Veröffentlicht in: Stikkelbroeck , N M M L , Hoefsloot , L H , De Wijs , I J , Otten , B J , Hermus , A R M M & Sistermans , E A 2003 , ' CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands : Six novel mutations and a specific cluster of four mutations ' , Journal of Clinical Endocrinology and Metabolism , vol. 88 , no. 8 , pp. 3852-3859 . https://doi.org/10.1210/jc.2002-021681;
2003
2
Hofstra, Julia M., Lainez, Sergio, van Kuijk, Willie H.M., Schoots, Jeroen, Baltissen, Marijke P.A., Hoefsloot, Lies H., Knoers, Nine V.A.M., Berden, Jo H.M., Bindels, René J.M., van der Vlag, Johan, Hoenderop, Joost G.J., Wetzels, Jack F.M., Nijenhuis, Tom
Veröffentlicht in: Nephrology Dialysis Transplantation ; volume 28, issue 7, page 1830-1838 ; ISSN 1460-2385 0931-0509;
2013
Veröffentlicht in: Nephrology Dialysis Transplantation ; volume 28, issue 7, page 1830-1838 ; ISSN 1460-2385 0931-0509;
2013
3
Heutinck, Pam A.T., van den Born, L. Ingeborgh, Vermeer, Maikel, Iglesias Gonzales, Adriana I., Hoyng, Carel B., Pott, Jan Willem R., Kroes, Hester Y., van Schooneveld, Mary J., Boon, Camiel J.F., van Genderen, Maria M., Plomp, Astrid S., de Jong-Hesse, Yvonne, van Egmond-Ebbeling, Michelle B., Hoefsloot, Lies H., A Bergen, Arthur, Klaver, Caroline C.W., Meester-Smoor, Magda A., Thiadens, Alberta A.H.J., Verhoeven, Virginie J.M.
Veröffentlicht in: Heutinck , P A T , van den Born , L I , Vermeer , M , Iglesias Gonzales , A I , Hoyng , C B , Pott , J W R , Kroes , H Y , van Schooneveld , M J , Boon , C J F , van Genderen , M M , Plomp , A S , de Jong-Hesse , Y , van Egmond-Ebbeling , M B , Hoefsloot , L H , A Bergen , A , Klaver , C C W , Meester-Smoor , M A , Thiadens , A A H J & Verhoeven , V J M 2024 , ' Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort : The RD5000 Consortium ' , Investigative ophthalmology & visual science , vol. 65 , no. 10 , 40 , pp. 40 . https://doi.org/10.1167/iovs.65.10.40;
2024
Veröffentlicht in: Heutinck , P A T , van den Born , L I , Vermeer , M , Iglesias Gonzales , A I , Hoyng , C B , Pott , J W R , Kroes , H Y , van Schooneveld , M J , Boon , C J F , van Genderen , M M , Plomp , A S , de Jong-Hesse , Y , van Egmond-Ebbeling , M B , Hoefsloot , L H , A Bergen , A , Klaver , C C W , Meester-Smoor , M A , Thiadens , A A H J & Verhoeven , V J M 2024 , ' Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort : The RD5000 Consortium ' , Investigative ophthalmology & visual science , vol. 65 , no. 10 , 40 , pp. 40 . https://doi.org/10.1167/iovs.65.10.40;
2024
4
Heutinck, Pam A.T., van den Born, L. Ingeborgh, Vermeer, Maikel, Iglesias Gonzales, Adriana I., Hoyng, Carel B., Pott, Jan Willem R., Kroes, Hester Y., van Schooneveld, Mary J., Boon, Camiel J.F., van Genderen, Maria M., Plomp, Astrid S., de Jong-Hesse, Yvonne, van Egmond-Ebbeling, Michelle B., Hoefsloot, Lies H., A Bergen, Arthur, Klaver, Caroline C.W., Meester-Smoor, Magda A., Thiadens, Alberta A.H.J., Verhoeven, Virginie J.M.
2024
2024
5
Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans PM, Hoefsloot, Lies, Yntema, Helger G
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 5, page 591-599 ; ISSN 1018-4813 1476-5438;
2017
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 5, page 591-599 ; ISSN 1018-4813 1476-5438;
2017
6
Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 3, page 308-314 ; ISSN 1018-4813 1476-5438;
2016
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 3, page 308-314 ; ISSN 1018-4813 1476-5438;
2016