1
Birnie, Erwin, Schuurmans, Juliette, Plantinga, Mirjam, Abbott, Kristin M, Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y, van Langen, Irene M, Ranchor, Adelita V
Veröffentlicht in: Birnie , E , Schuurmans , J , Plantinga , M , Abbott , K M , Fenwick , A , Lucassen , A , Berger , M Y , van Langen , I M & Ranchor , A V 2021 , ' Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population : psychological outcomes and reproductive intentions ' , Genetics in Medicine , vol. 23 , no. 9 , pp. 1761-1768 . https://doi.org/10.1038/s41436-021-01199-6;
2021
Veröffentlicht in: Birnie , E , Schuurmans , J , Plantinga , M , Abbott , K M , Fenwick , A , Lucassen , A , Berger , M Y , van Langen , I M & Ranchor , A V 2021 , ' Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population : psychological outcomes and reproductive intentions ' , Genetics in Medicine , vol. 23 , no. 9 , pp. 1761-1768 . https://doi.org/10.1038/s41436-021-01199-6;
2021
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Schuurmans, Juliette, Birnie, Erwin, Ranchor, Adelita, Abbott, Kristin M., Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y., Verkerk, Marian, van Langen, Irene M., Plantinga, Mirjam
Veröffentlicht in: Schuurmans , J , Birnie , E , Ranchor , A , Abbott , K M , Fenwick , A , Lucassen , A , Berger , M Y , Verkerk , M , van Langen , I M & Plantinga , M 2020 , ' GP-provided couple-based expanded preconception carrier screening in the Dutch general population : who accepts the test-offer and why? ' , EJHG , vol. 28 , no. 2 , pp. 182-192 . https://doi.org/10.1038/s41431-019-0516-0;
2020
Veröffentlicht in: Schuurmans , J , Birnie , E , Ranchor , A , Abbott , K M , Fenwick , A , Lucassen , A , Berger , M Y , Verkerk , M , van Langen , I M & Plantinga , M 2020 , ' GP-provided couple-based expanded preconception carrier screening in the Dutch general population : who accepts the test-offer and why? ' , EJHG , vol. 28 , no. 2 , pp. 182-192 . https://doi.org/10.1038/s41431-019-0516-0;
2020
4
Schuurmans, Juliette, Birnie, Erwin, Ranchor, Adelita V., Abbott, Kristin M., Fenwick, Angela, Lucassen, Anneke, Berger, Marjolein Y., Verkerk, Marian, van Langen, Irene M., Plantinga, Mirjam
Veröffentlicht in: European Journal of Human Genetics ; volume 28, issue 2, page 182-192 ; ISSN 1018-4813 1476-5438;
2019
Veröffentlicht in: European Journal of Human Genetics ; volume 28, issue 2, page 182-192 ; ISSN 1018-4813 1476-5438;
2019
5
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
6
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
7
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, Lekanne Deprez, Ronald H, Waisfisz, Quinten, Abbott, Kristin M, Sinke, Richard J, Rahman, Rubayte, Nijman, Isaäc 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 , Lekanne Deprez , R H , 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 , Lekanne Deprez , R H , 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
8
Elsink, Kim, Huibers, Manon M.H., Hollink, Iris H.I.M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S.V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A.S.H., Vermont, Clementien L., van de Ven, Annick A.J.M., Lambeck, Annechien J.A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W., Frederix, Geert W.J., van Gijn, Mariëlle E., van Montfrans, Joris M.
Veröffentlicht in: Elsink , K , Huibers , M M H , the Genetics First for Primary Immunodeficiency Disorders Consortium , Hollink , I H I M , Simons , A , Zonneveld-Huijssoon , E , van der Veken , L T , Leavis , H L , Henriet , S S V , van Deuren , M , van de Veerdonk , F L , Potjewijd , J , Berghuis , D , Dalm , V A S H , Vermont , C L , van de Ven , A A J M , Lambeck , A J A , Abbott , K M , van Hagen , P M , de Bree , G J , Kuijpers , T W , Frederix , G W J , van Gijn , M E & van Montfrans , J M 2021 , ' Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity : A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers ' , Frontiers in Immunology , vol. 12 , 780134 . https://doi.org/10.3389/fimmu.2021.780134 , https://doi.org/10.3389/fimmu.2021.780134;
2021
Veröffentlicht in: Elsink , K , Huibers , M M H , the Genetics First for Primary Immunodeficiency Disorders Consortium , Hollink , I H I M , Simons , A , Zonneveld-Huijssoon , E , van der Veken , L T , Leavis , H L , Henriet , S S V , van Deuren , M , van de Veerdonk , F L , Potjewijd , J , Berghuis , D , Dalm , V A S H , Vermont , C L , van de Ven , A A J M , Lambeck , A J A , Abbott , K M , van Hagen , P M , de Bree , G J , Kuijpers , T W , Frederix , G W J , van Gijn , M E & van Montfrans , J M 2021 , ' Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity : A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers ' , Frontiers in Immunology , vol. 12 , 780134 . https://doi.org/10.3389/fimmu.2021.780134 , https://doi.org/10.3389/fimmu.2021.780134;
2021
9
Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.
Veröffentlicht in: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224;
2021
Veröffentlicht in: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224;
2021