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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer-Onnes, I, Hennekam, R C M
2006

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A novel lamin a/c mutation in a Dutch family with premature atherosclerosis

Weterings, A. A. W., Van Rijsingen, I. A. W., Plomp, A. S., Zwinderman, A. H., Lekanne Deprez, R. H., Mannens, M. M. A. M., Van Den Bergh Weerman, M. A., Van Der Wal, A. C., Pinto, S. J.
Veröffentlicht in: European Heart Journal ; volume 34, issue suppl 1, page P2415-P2415 ; ISSN 0195-668X 1522-9645;
2013

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Recurrent and founder mutations in the Netherlands:cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Deprez, R. H. Lekanne, Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Veröffentlicht in: van den Wijngaard , A , Volders , P , Van Tintelen , J P , Jongbloed , J D H , van den Berg , M P , Deprez , R H L , Mannens , M M A M , Hofmann , N , Slegtenhorst , M , Dooijes , D , Michels , M , Arens , Y , Jongbloed , R & Smeets , B J M 2011 , ' Recurrent and founder mutations in the Netherlands : cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy ' , Netherlands Heart Journal , vol. 19 , no. 7-8 , pp. 344-351 . https://doi.org/10.1007/s12471-011-0135-z;
2011

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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Veröffentlicht in: Netherlands Heart Journal ; volume 19, issue 7-8, page 344-351 ; ISSN 1568-5888 1876-6250;
2011

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Recurrent and founder mutations in the Netherlands: Cardiac troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Wijngaard, A. (Arthur) van den, Volders, P.G.A. (Paul), Tintelen, J.P. (Peter) van, Jongbloed, J.D.H. (Jan), Berg, M.P. (Maarten) van den, Lekanne Deprez, R.H., Mannens, M.M.A.M. (Marcel), Hofmann, N., Slegtenhorst, M.A. (Marjon) van, Dooijes, D. (Dennis), Michels, M. (Michelle), Arens, Y.H.J.M. (Yvonne), Smeets, B.J.M.
2011

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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder:results of a prospective multicenter clinical utility study in the Netherlands

Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., Frederix, G. W.J., Oegema, R.
Veröffentlicht in: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W , Frederix , G W J , Vissers , L E L M , Henneman , L , van Haelst , M M , Sistermans , E A , Cornel , M C , Misra-Isrie , M , Mannens , M M A M , Waisfisz , Q , van Hagen , J M , Brooks , A S , Barakat , T S , Hoefsloot , E H , van Lingen , R A , Ruivenkamp , C A L , Koene , S , Rutten , J W , de Koning , B , Stevens , S J C , van den Wijngaard , A , Stegmann , A P A , Deden , A C , Rodenburg , W , Sinke , R J , van der Velde , K J , de Vries , L S , Frederix , G W J & Oegema , R 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023

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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M., Henneman, L, van Haelst, M M, Sistermans, E A, Cornel, M C, Misra-Isrie, M, Mannens, M M A M, Waisfisz, Q, van Hagen, J M, Brooks, A S, Barakat, T S, Hoefsloot, E H, van Lingen, R A, Ruivenkamp, C A L, van Haeringen, A, Koene, S, Santen, G W E, Rutten, J W, de Koning, B, Stevens, S J C, van den Wijngaard, A, Sinnema, M, Stegmann, A P A, Vreeburg, M, Vervoorn, M, Andriessen, P, Kasteel, D
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023