1
van den Wijngaard, A., Volders, P., van Tintelen, J. Peter, Jongbloed, Jan D. H., van den Berg, M. P., Deprez, Ronald H. Lekanne, Mannens, Marcel M. A. M., Hofmann, N., van Slegtenhorst, Marjon, Dooijes, Dennis, Michels, Michelle, 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 , van 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
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 , van 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
2
Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Deprez, Ronald H. Lekanne, Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaac J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Deprez , R H L , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Deprez , R H L , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019