학술논문
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'학술논문'
에서 검색결과 48건 | 목록
1~20
Academic Journal
Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A. ; Calpena, Eduardo ; McGowan, Simon J. ; Boute, Odile ; Collet, Corinne ; Johnson, David ; Laffargue, Fanny ; de Leeuw, Nicole ; Morton, Jenny V. ; Noons, Peter ; Ockeloen, Charlotte W. ; Phipps, Julie M. ; Tan, Tiong Yang ; Timberlake, Andrew T. ; Vanlerberghe, Clemence ; Wall, Steven A. ; Weber, Astrid ; Wilson, Louise C. ; Zackai, Elaine H. ; Mathijssen, Irene M.J. ; Twigg, Stephen R.F. ; Wilkie, Andrew O.M.
In Genetics in Medicine September 2023 25(9)
Academic Journal
Suratannon, Narissara ; Ittiwut, Chupong ; Dik, Willem A. ; Ittiwut, Rungnapa ; Meesilpavikkai, Kornvalee ; Israsena, Nipan ; Ingrungruanglert, Praewphan ; Dalm, Virgil A.S. H. ; van Daele, Paul L.A. ; Sanpavat, Anapat ; Chaijitraruch, Nataruks ; Schrijver, Benjamin ; Buranapraditkun, Supranee ; Porntaveetus, Thantrira ; Swagemakers, Sigrid M.A. ; IJspeert, Hanna ; Palaga, Tanapat ; Suphapeetiporn, Kanya ; van der Spek, Peter J. ; Hirankarn, Nattiya ; Chatchatee, Pantipa ; Martin van Hagen, P. ; Shotelersuk, Vorasuk
In The Journal of Allergy and Clinical Immunology February 2023 151(2):565-571
Academic Journal
Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M.A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E.V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R.F. ; Mathijssen, Irene M.J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O.M.
In Genetics in Medicine September 2020 22(9):1498-1506
Academic Journal
Dasgupta, Shatavisha ; Ewing-Graham, Patricia C. ; Swagemakers, Sigrid M.A. ; van der Spek, Peter J. ; van Doorn, Helena C. ; Noordhoek Hegt, Vincent ; Koljenović, Senada ; van Kemenade, Folkert J.
In Critical Reviews in Oncology / Hematology March 2020 147
Academic Journal
Cunningham, Janet L.; Frankovich, Jennifer; Dubin, Robert A.; Pedrosa, Erika; Baykara, Refia Nur; Schlenk, Noelle Cathleen; Maqbool, Shahina B.; Dolstra, Hedwig; Marino, Jacqueline; Edinger, Jacob; Shea, Julia M.; Laje, Gonzalo; Swagemakers, Sigrid M.A.; Sinnadurai, Siamala; Zhang, Zhengdong D.; Lin, Jhih-Rong; van der Spek, Peter J.; Lachman, Herbert M.
Developmental Neuroscience; 2025, Vol. 47 Issue 4, p231-250, 20p
Academic Journal
Twigg, Stephen R.F. ; Forecki, Jennifer ; Goos, Jacqueline A.C. ; Richardson, Ivy C.A. ; Hoogeboom, A. Jeannette M. ; van den Ouweland, Ans M.W. ; Swagemakers, Sigrid M.A. ; Lequin, Maarten H. ; Van Antwerp, Daniel ; McGowan, Simon J. ; Westbury, Isabelle ; Miller, Kerry A. ; Wall, Steven A. ; van der Spek, Peter J. ; Mathijssen, Irene M.J. ; Pauws, Erwin ; Merzdorf, Christa S. ; Wilkie, Andrew O.M.
In The American Journal of Human Genetics 3 September 2015 97(3):378-388
Academic Journal
de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A. ; Hampstead, Juliet E. ; Dingemans, Alexander J.M. ; Rots, Dmitrijs ; Lütje, Lukas ; Ashraf, Tazeen ; Baker, Rachel ; Barat-Houari, Mouna ; Angle, Brad ; Chatron, Nicolas ; Denommé-Pichon, Anne-Sophie ; Devinsky, Orrin ; Dubourg, Christèle ; Elmslie, Frances ; Elloumi, Houda Zghal ; Faivre, Laurence ; Fitzgerald-Butt, Sarah ; Geneviève, David ; Goos, Jacqueline A.C. ; Helm, Benjamin M. ; Kini, Usha ; Lasa-Aranzasti, Amaia ; Lesca, Gaetan ; Lynch, Sally A. ; Mathijssen, Irene M.J. ; McGowan, Ruth ; Monaghan, Kristin G. ; Odent, Sylvie ; Pfundt, Rolph ; Putoux, Audrey ; van Reeuwijk, Jeroen ; Santen, Gijs W.E. ; Sasaki, Erina ; Sorlin, Arthur ; van der Spek, Peter J. ; Stegmann, Alexander P.A. ; Swagemakers, Sigrid M.A. ; Valenzuela, Irene ; Viora-Dupont, Eléonore ; Vitobello, Antonio ; Ware, Stephanie M. ; Wéber, Mathys ; Gilissen, Christian ; Low, Karen J. ; Fisher, Simon E. ; Vissers, Lisenka E.L.M. ; Wong, Maggie M.K. ; Kleefstra, Tjitske
In Genetics in Medicine November 2023 25(11)
Academic Journal
Terlou, Annelinde ; Santegoets, Lindy A.M. ; van der Meijden, Willem I. ; Heijmans-Antonissen, Claudia ; Swagemakers, Sigrid M.A. ; van der Spek, Peter J. ; Ewing, Patricia C. ; van Beurden, Marc ; Helmerhorst, Theo J.M. ; Blok, Leen J.
In Journal of Investigative Dermatology March 2012 132(3) Part 1:658-666
Academic Journal
Silva, Fernando P.G. ; Swagemakers, Sigrid M.A. ; Erpelinck-Verschueren, Claudia ; Wouters, Bas J. ; Delwel, Ruud ; Vrieling, Harry ; van der Spek, Peter ; Valk, Peter J.M. ; Giphart-Gassler, Micheline
In Blood 1 October 2009 114(14):3001-3007
Academic Journal
Schrijver, Benjamin; Kolijn, P. Martijn; ten Berge, Josianne C.E.M.; Nagtzaam, Nicole M.A.; van Rijswijk, Angelique L.C.T.; Swagemakers, Sigrid M.A.; van der Spek, Peter J.; Missotten, Tom O.A.R.; van Velthoven, Mirjam E.J.; de Hoog, Joeri; van Hagen, P. Martin; Langerak, Anton W.; Dik, Willem A.
Academic Journal
Theil, Arjan F. ; Botta, Elena ; Raams, Anja ; Smith, Desiree E.C. ; Mendes, Marisa I. ; Caligiuri, Giuseppina ; Giachetti, Sarah ; Bione, Silvia ; Carriero, Roberta ; Liberi, Giordano ; Zardoni, Luca ; Swagemakers, Sigrid M.A. ; Salomons, Gajja S. ; Sarasin, Alain ; Lehmann, Alan ; van der Spek, Peter J. ; Ogi, Tomoo ; Hoeijmakers, Jan H.J. ; Vermeulen, Wim ; Orioli, Donata
In The American Journal of Human Genetics 1 August 2019 105(2):434-440
Academic Journal
Calpena, Eduardo ; Hervieu, Alexia ; Kaserer, Teresa ; Swagemakers, Sigrid M.A. ; Goos, Jacqueline A.C. ; Popoola, Olajumoke ; Ortiz-Ruiz, Maria Jesus ; Barbaro-Dieber, Tina ; Bownass, Lucy ; Brilstra, Eva H. ; Brimble, Elise ; Foulds, Nicola ; Grebe, Theresa A. ; Harder, Aster V.E. ; Lees, Melissa M. ; Monaghan, Kristin G. ; Newbury-Ecob, Ruth A. ; Ong, Kai-Ren ; Osio, Deborah ; Reynoso Santos, Francis Jeshira ; Ruzhnikov, Maura R.Z. ; Telegrafi, Aida ; van Binsbergen, Ellen ; van Dooren, Marieke F. ; van der Spek, Peter J. ; Blagg, Julian ; Twigg, Stephen R.F. ; Mathijssen, Irene M.J. ; Clarke, Paul A. ; Wilkie, Andrew O.M.
In The American Journal of Human Genetics 4 April 2019 104(4):709-720
Academic Journal
Reijnders, Margot R.F. ; Miller, Kerry A. ; Alvi, Mohsan ; Goos, Jacqueline A.C. ; Lees, Melissa M. ; de Burca, Anna ; Henderson, Alex ; Kraus, Alison ; Mikat, Barbara ; de Vries, Bert B.A. ; Isidor, Bertrand ; Kerr, Bronwyn ; Marcelis, Carlo ; Schluth-Bolard, Caroline ; Deshpande, Charu ; Ruivenkamp, Claudia A.L. ; Wieczorek, Dagmar ; Baralle, Diana ; Blair, Edward M. ; Engels, Hartmut ; Lüdecke, Hermann-Josef ; Eason, Jacqueline ; Santen, Gijs W.E. ; Clayton-Smith, Jill ; Chandler, Kate ; Tatton-Brown, Katrina ; Payne, Katelyn ; Helbig, Katherine ; Radtke, Kelly ; Nugent, Kimberly M. ; Cremer, Kirsten ; Strom, Tim M. ; Bird, Lynne M. ; Sinnema, Margje ; Bitner-Glindzicz, Maria ; van Dooren, Marieke F. ; Alders, Marielle ; Koopmans, Marije ; Brick, Lauren ; Kozenko, Mariya ; Harline, Megan L. ; Klaassens, Merel ; Steinraths, Michelle ; Cooper, Nicola S. ; Edery, Patrick ; Yap, Patrick ; Terhal, Paulien A. ; van der Spek, Peter J. ; Lakeman, Phillis ; Taylor, Rachel L. ; Littlejohn, Rebecca O. ; Pfundt, Rolph ; Mercimek-Andrews, Saadet ; Stegmann, Alexander P.A. ; Kant, Sarina G. ; McLean, Scott ; Joss, Shelagh ; Swagemakers, Sigrid M.A. ; Douzgou, Sofia ; Wall, Steven A. ; Küry, Sébastien ; Calpena, Eduardo ; Koelling, Nils ; McGowan, Simon J. ; Twigg, Stephen R.F. ; Mathijssen, Irene M.J. ; Nellaker, Christoffer ; Brunner, Han G. ; Wilkie, Andrew O.M.
In The American Journal of Human Genetics 7 June 2018 102(6):1195-1203
Academic Journal
Dasgupta, Shatavisha; Ewing-Graham, Patricia C.; van den Bosch, Thierry P.P.; Swagemakers, Sigrid M.A.; Santegoets, Lindy A.M.; van Doorn, Helena C.; van derSpek, Peter J.; Koljenovic, Senada; van Kemenade, Folkert J.
Oncology Letters. May, 2021, Vol. 21 Issue 5, p1ao, 22 p.
Academic Journal
Calpena, Eduardo ; Cuellar, Araceli ; Bala, Krithi ; Swagemakers, Sigrid M.A. ; Koelling, Nils ; McGowan, Simon J. ; Phipps, Julie M. ; Balasubramanian, Meena ; Cunningham, Michael L. ; Douzgou, Sofia ; Lattanzi, Wanda ; Morton, Jenny E.V. ; Shears, Deborah ; Weber, Astrid ; Wilson, Louise C. ; Lord, Helen ; Lester, Tracy ; Johnson, David ; Wall, Steven A. ; Twigg, Stephen R.F. ; Mathijssen, Irene M.J. ; Boardman-Pretty, Freya ; Boyadjiev, Simeon A. ; Wilkie, Andrew O.M.
In Genetics in Medicine September 2020 22(9):1567-1567
Academic Journal
Putera, Ikhwanuliman; Swagemakers, Sigrid M.A.; Nagtzaam, Nicole M.A.; van Holten-Neelen, Conny; Nora, Rina La Distia; de Steenwinkel, Jurriaan E.M.; Rombach, Saskia M.; van Hagen, P. Martin; Dik, Willem A.
Invest Ophthalmol Vis Sci
Academic Journal
Swagemakers, Sigrid M.A. ; Jaspers, Nicolaas G.J. ; Raams, Anja ; Heijsman, Daphne ; Vermeulen, Wim ; Troelstra, Christine ; Kremer, Andreas ; Lincoln, Stephen E. ; Tearle, Rick ; Hoeijmakers, Jan H.J. ; van der Spek, Peter J.
In Meta Gene December 2014 2:616-618
Academic Journal
de Boer, Elke; Ockeloen, Charlotte; Kampen, Rosalie; Hampstead, Juliet; Dingemans, Alexander; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denommé‐pichon, Anne‐sophie; Devinsky, Orrin; Dubourg, Christèle; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Geneviève, David; Goos, Jacqueline A.C.; Helm, Benjamin; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaëtan; Lynch, Sally-Ann; Mathijssen, Irene M.J.; Mcgowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W.E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter; Stegmann, Alexander; Swagemakers, Sigrid M.A.; Valenzuela, Irene; Viora-Dupont, Eléonore; Vitobello, Antonio; Ware, Stephanie; Wéber, Mathys; Gilissen, Christian; Low, Karen; Fisher, Simon; Vissers, Lisenka E.L.M.; Wong, Maggie M.K.; Kleefstra, Tjitske
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 24, 10, pp. 2051-2064
Genetics in medicine : official journal of the American College of Medical Genetics
United States
Genetics in Medicine
de Boer, E, Ockeloen, C W, Kampen, R A, Hampstead, J E, Dingemans, A J M, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, H Z, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, J A C, Helm, B M, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, S A, Mathijssen, I M J, McGowan, R, Monaghan, K G, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, G W E, Sasaki, E, Sorlin, A, van der Spek, P J, Stegmann, A P A, Swagemakers, S M A, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, S M, Wéber, M, Gilissen, C, Low, K J, Fisher, S E, Vissers, L E L M, Wong, M M K & Kleefstra, T 2022, 'Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein', Genetics in Medicine, vol. 24, no. 10, pp. 2051-2064. https://doi.org/10.1016/j.gim.2022.06.007
Genet Med.
Academic Journal
Goos, Jacqueline A.C.; Fenwick, Aimee L.; Swagemakers, Sigrid M.A.; McGowan, Simon J.; Knight, Samantha J.L.; Twigg, Stephen R.F.; Hoogeboom, Jeannette A.M.; van Dooren, Marieke F.; Magielsen, Frank J.; Wall, Steven A.; Mathijssen, Irene M.J.; Wilkie, Andrew O.M.; van der Spek, Peter J.; van den Ouweland, Ans M.W.
Human Mutation. Jun 06, 2016
Academic Journal
Helsmoortel, Céline; Swagemakers, Sigrid M.A.; Vandeweyer, Geert; Stubbs, Andrew P.; Palli, Ivo; Mortier, Geert; Kooy, R. Frank; van der Spek, Peter J.
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics; Dec2016, Vol. 171B Issue 8, p1049-1056, 8p
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[AR] Swagemakers, Sigrid M.A.
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