Zobrazeno 1 - 9
of 9
pro vyhledávání: '"van der Zwaag, Paul A."'
Autor:
Eijgenraam, Tim R., Boukens, Bastiaan J., Boogerd, Cornelis J., Schouten, E. Marloes, van de Kolk, Cees W.A., Stege, Nienke M., te Rijdt, Wouter P., Hoorntje, Edgar T., van der Zwaag, Paul A., van Rooij, Eva, van Tintelen, J. Peter, van den Berg, Maarten P., van der Meer, Peter, van der Velden, Jolanda, Silljé, Herman H.W., de Boer, Rudolf A.
Publikováno v:
Eijgenraam, T R, Boukens, B J, Boogerd, C J, Schouten, E M, van de Kolk, C W A, Stege, N M, te Rijdt, W P, Hoorntje, E T, van der Zwaag, P A, van Rooij, E, van Tintelen, J P, van den Berg, M P, van der Meer, P, van der Velden, J, Silljé, H H W & de Boer, R A 2020, ' Author Correction : The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy (Scientific Reports, (2020), 10, 1, (9819), 10.1038/s41598-020-66656-9) ', Scientific Reports, vol. 10, no. 1, 16710 . https://doi.org/10.1038/s41598-020-70780-x
The title in the original version of this Article contained a typographical error of ‘unresponsive’. The error has now been corrected in the PDF and HTML versions of the Article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::5f7638dcf1031017b96cc1f5bfc5f148
https://research.vumc.nl/en/publications/454e01bb-6328-48f4-b036-d4755d4bf280
https://research.vumc.nl/en/publications/454e01bb-6328-48f4-b036-d4755d4bf280
Autor:
Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H., Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha
Publikováno v:
Scientific reports, 10(1):17264. Nature Publishing Group
In the original version of this Article, the author J. Peter van Tintelen was incorrectly indexed. This error has now been corrected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3c2fdec78821b7de0353c4f47ce4c33d
https://pure.amc.nl/en/publications/publisher-correction-relevance-of-titin-missense-and-nonframeshifting-insertionsdeletions-variants-in-dilated-cardiomyopathy-scientific-reports-2019-9-1-4093-101038s4159801939911x(b0545937-f2bd-44af-807f-7e04982cf61d).html
https://pure.amc.nl/en/publications/publisher-correction-relevance-of-titin-missense-and-nonframeshifting-insertionsdeletions-variants-in-dilated-cardiomyopathy-scientific-reports-2019-9-1-4093-101038s4159801939911x(b0545937-f2bd-44af-807f-7e04982cf61d).html
Autor:
van Lint, Freyja H. M., Murray, Brittney, Tichnell, Crystal, Zwart, Rob, Amat, Nuria, Lekanne Deprez, Ronald H., Dittmann, Sven, Stallmeyer, Birgit, Calkins, Hugh, van der Smagt, Jasper J., van den Wijngaard, Arthur, Dooijes, Dennis, van der Zwaag, Paul A., Schulze-Bahr, Eric, Judge, Daniel P., Jongbloed, Jan D. H., van Tintelen, J. Peter, James, Cynthia A.
Publikováno v:
Circulation. Genomic and precision medicine, 12(8). Lippincott Williams and Wilkins Ltd.
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de novo mutation rate and extent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::47d774d99bed78b498d72025d8fa6af6
https://pure.amc.nl/en/publications/arrhythmogenic-right-ventricular-cardiomyopathyassociated-desmosomal-variants-are-rarely-de-novo(3c3ceea3-a3ef-4d13-8c86-d28985aa4182).html
https://pure.amc.nl/en/publications/arrhythmogenic-right-ventricular-cardiomyopathyassociated-desmosomal-variants-are-rarely-de-novo(3c3ceea3-a3ef-4d13-8c86-d28985aa4182).html
Autor:
Olson, Heather E., Jean-Marcais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R. F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., van de Putte, Dietje E. Fransen, Ruivenkamp, Claudia A. L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Riviere, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frerdric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke
Publikováno v:
American Journal of Human Genetics, 103(4). CELL PRESS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::01838d5831340613a10b72fcd18b6fe1
https://research.rug.nl/en/publications/58362dbc-eda3-4db2-be27-f2063dd044ab
https://research.rug.nl/en/publications/58362dbc-eda3-4db2-be27-f2063dd044ab
Autor:
Olson, Heather, Jean-Marçais, Nolwenn, Yang, Edward, Héron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul, Bijlsma, Emilia, Krock, Bryan, Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke, Burglen, Lydie, Lesca, Gaetan, Cho, Megan, Smith, Lacey, Sheidley, Beth, Moufawad El Achkar, Christelle, Pearl, Phillip, Poduri, Annapurna, Skraban, Cara, Tarpinian, Jennifer, Nesbitt, Addie, Fransen van de Putte, Dietje, Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David, Waxler, Jessica, Wierenga, Klaas, DDD Study,, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group,, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frederic, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan, Schuurs-Hoeijmakers, Janneke, Brunner, Han, Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Publikováno v:
American Journal of Human Genetics, 102, 5, pp. 995-1007
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.995-1007. ⟨10.1016/j.ajhg.2018.03.005⟩
American Journal of Human Genetics, 102(5), 995. Cell Press
American Journal of Human Genetics, 102(5), 995-1007. Cell Press
American Journal of Human Genetics, 102, 995-1007
American Journal of Human Genetics, 102(5), 995-1007
American Journal of Human Genetics, 102(5), 995-1007. CELL PRESS
International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for decip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dde912b9337dc237e1fe52afa277ff3
https://hdl.handle.net/2066/191654
https://hdl.handle.net/2066/191654
Autor:
Herkert, Johanna C., Abbott, Kristin M., Birnie, Erwin, Meems-Veldhuis, Martine T., Boven, Ludolf G., Benjamins, Maloes, Sarvaas, Gideon J. du Marchie, Barge-Schaapveld, Daniela Q., van Tintelen, J. P., van der Zwaag, Paul A., Vos, Yvonne J., Sinke, Richard J., van den Berg, Maarten P., van Langen, Irene M., Jongbloed, Jan D.
Publikováno v:
Circulation, 136:A18198. LIPPINCOTT WILLIAMS & WILKINS
Introduction: Dilated cardiomyopathy (DCM) is a progressive disease of heart muscle with an incidence of approximately 0.57 per 100,000 children in the US. The spectrum and frequency of mutations in known DCM genes differ among adults, children, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::00f4e7b6307cdb226d14f3c8452fd7ba
https://research.rug.nl/en/publications/fdeb4234-5d30-451b-82cd-80b56a10c7a8
https://research.rug.nl/en/publications/fdeb4234-5d30-451b-82cd-80b56a10c7a8
Autor:
van der Zwaag, Paul A., Herkert, Johanna C., Sarvaas, Gideon J. du Marchie, Bartelds, Beatrijs, van Diemen, Cleo C., de Koning, Tom J., Jongbloed, Jan D., Sikkema-Raddatz, Birgit, Franke, Lude, Sinke, Richard J., van Langen, Irene M., Wijmenga, Cisca, Kerstjens-Frederikse, Wilhelmina S.
Publikováno v:
Circulation, 134. LIPPINCOTT WILLIAMS & WILKINS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::eb39fe2917f6e9f8ea6fedd4c417cd30
https://research.rug.nl/en/publications/4f1e4855-610e-47cb-8405-f513033ed919
https://research.rug.nl/en/publications/4f1e4855-610e-47cb-8405-f513033ed919
Autor:
te Rijdt, Wouter P., Gho, Johannes M., van der Zwaag, Paul A., de Boer, Rudolf A., van den Berg, Maarten A., van Tintelen, J. P., van der Wal, Allard C., Vink, Aryan, Suurmeijer, Albert J.
Publikováno v:
Circulation, 128(22):A16699. LIPPINCOTT WILLIAMS & WILKINS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::4b263f01b41972ea00b9870370ca77d5
https://research.rug.nl/en/publications/bb91c5f3-28a9-4859-bff2-56f71a4e8042
https://research.rug.nl/en/publications/bb91c5f3-28a9-4859-bff2-56f71a4e8042
Autor:
Almomani, Rowida, Zhang, J., van der Zwaag, Paul A., Posafalvi, Anna, van Spaendonck - Zwarts, Karin Y., van den Berg, Maarten P., van Veldhuisen, Dirkjan J., Sikkema-Raddatz, Birgit, Sinke, Richard J., van Tintelen, Peter, Wang, J., Jongbloed, Jan D.
Publikováno v:
Circulation, 126(21). LIPPINCOTT WILLIAMS & WILKINS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::443a7799a3467e4e5142c4e98cdc9686
https://research.rug.nl/en/publications/23e9678c-285b-47fb-814d-22a396f84e94
https://research.rug.nl/en/publications/23e9678c-285b-47fb-814d-22a396f84e94