학술논문
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'학술논문'
에서 검색결과 148건 | 목록
1~20
Academic Journal
Lauren D. Punt; Daniëlle C.M. van der Kaay; Petra A. van Setten; Kirsten de Groote; Anne R. Kruijsen; Gianni Bocca; Sonja A. de Munnik; Judith S. Renes; Christiaan de Bruin; Monique Losekoot; Hermine A. van Duyvenvoorde; Jan M. Wit; Sjoerd D. Joustra
Hormone Research in Paediatrics. :1-11
Academic Journal
Reynhout, Sara ; Jansen, Sandra ; Haesen, Dorien ; van Belle, Siska ; de Munnik, Sonja A. ; Bongers, Ernie M.H.F. ; Schieving, Jolanda H. ; Marcelis, Carlo ; Amiel, Jeanne ; Rio, Marlène ; Mclaughlin, Heather ; Ladda, Roger ; Sell, Susan ; Kriek, Marjolein ; Peeters-Scholte, Cacha M.P.C.D. ; Terhal, Paulien A. ; van Gassen, Koen L. ; Verbeek, Nienke ; Henry, Sonja ; Scott Schwoerer, Jessica ; Malik, Saleem ; Revencu, Nicole ; Ferreira, Carlos R. ; Macnamara, Ellen ; Braakman, Hilde M.H. ; Brimble, Elise ; Ruzhnikov, Maura R.Z. ; Wagner, Matias ; Harrer, Philip ; Wieczorek, Dagmar ; Kuechler, Alma ; Tziperman, Barak ; Barel, Ortal ; de Vries, Bert B.A. ; Gordon, Christopher T. ; Janssens, Veerle ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 3 January 2019 104(1):139-156
Academic Journal
Baliakas, Panagiotis ; Blombery, Piers ; Fox, Lucy C. ; Donadieu, Jean ; Rio-Machin, Ana ; Steinberg-Shemer, Orna ; Morgan, Neil V. ; Ngeow, Joanne Y. Y. ; Skokowa, Julia ; Pinese, Mark ; Cowley, Mark J. ; Zerella, Jiarna R. ; Homan, Claire C. ; Arts, Peer ; Lin, Xuzhu ; Spinelli, Sam J. ; Venugopal, Parvathy ; Babic, Milena ; Brautigan, Peter J. ; Truong, Lynda ; Arriola-Martinez, Luis ; Moore, Sarah ; Hollins, Rachel ; Parker, Wendy T. ; Nguyen, Hung ; Kassahn, Karin S. ; Branford, Susan ; Feurstein, Simone ; Larcher, Lise ; Sicre de Fontbrune, Flore ; Demirdas, Serwet ; de Munnik, Sonja ; Antoine-Poirel, Hélène ; Brichard, Benedicte ; Mansour, Sahar ; Gordon, Kristiana ; Wlodarski, Marcin W. ; Koppayi, Ashwin ; Dobbins, Sara ; Mutsaers, Pim G. N. J. ; Nichols, Kim E. ; Oak, Ninad ; DeMille, Desiree ; Mao, Rong ; Crawford, Ali ; McCarrier, Julie ; Basel, Donald ; Flores-Daboub, Josue ; Drazer, Michael W. ; Phillips, Kerry ; Poplawski, Nicola K. ; Birdsey, Graeme M. ; Pirri, Daniela ; Ostergaard, Pia ; Simons, Annet ; Godley, Lucy A. ; Ross, David M. ; Hiwase, Devendra K. ; Soulier, Jean ; Brown, Anna L. ; Carmichael, Catherine L. ; Scott, Hamish S. ; Hahn, Christopher N.
In Blood 24 October 2024 144(17):1765-1780
Academic Journal
van der Laan, Liselot ; Silva, Ananília ; Kleinendorst, Lotte ; Rooney, Kathleen ; Haghshenas, Sadegheh ; Lauffer, Peter ; Alanay, Yasemin ; Bhai, Pratibha ; Brusco, Alfredo ; de Munnik, Sonja ; de Vries, Bert B.A. ; Vega, Angelica Delgado ; Engelen, Marc ; Herkert, Johanna C. ; Hochstenbach, Ron ; Hopman, Saskia ; Kant, Sarina G. ; Kira, Ryutaro ; Kato, Mitsuhiro ; Keren, Boris ; Kroes, Hester Y. ; Levy, Michael A. ; Lock-Hock, Ngu ; Maas, Saskia M. ; Mancini, Grazia M.S. ; Marcelis, Carlo ; Matsumoto, Naomichi ; Mizuguchi, Takeshi ; Mussa, Alessandro ; Mignot, Cyril ; Närhi, Anu ; Nordgren, Ann ; Pfundt, Rolph ; Polstra, Abeltje M. ; Trajkova, Slavica ; van Bever, Yolande ; José van den Boogaard, Marie ; van der Smagt, Jasper J. ; Barakat, Tahsin Stefan ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Academic Journal
Anouk E. J. Janssen; Rebekka M. Koeck; Rick Essers; Ping Cao; Wanwisa van Dijk; Marion Drüsedau; Jeroen Meekels; Burcu Yaldiz; Maartje van de Vorst; Bart de Koning; Debby M. E. I. Hellebrekers; Servi J. C. Stevens; Su Ming Sun; Malou Heijligers; Sonja A. de Munnik; Chris M. J. van Uum; Jelle Achten; Lars Hamers; Marjan Naghdi; Lisenka E. L. M. Vissers; Ron J. T. van Golde; Guido de Wert; Jos C. F. M. Dreesen; Christine de Die-Smulders; Edith Coonen; Han G. Brunner; Arthur van den Wijngaard; Aimee D. C. Paulussen; Masoud Zamani Esteki
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Academic Journal
Sandra Jansen; Ilse M. van der Werf; A. Micheil Innes; Alexandra Afenjar; Pankaj B. Agrawal; Ilse J. Anderson; Paldeep S. Atwal; Ellen van Binsbergen; Marie-José van den Boogaard; Lucia Castiglia; Zeynep H. Coban-Akdemir; Anke van Dijck; Diane Doummar; Albertien M. van Eerde; Anthonie J. van Essen; Koen L. van Gassen; Maria J. Guillen Sacoto; Mieke M. van Haelst; Ivan Iossifov; Jessica L. Jackson; Elizabeth Judd; Charu Kaiwar; Boris Keren; Eric W. Klee; Jolien S. Klein Wassink-Ruiter; Marije E. Meuwissen; Kristin G. Monaghan; Sonja A. de Munnik; Caroline Nava; Charlotte W. Ockeloen; Rosa Pettinato; Hilary Racher; Tuula Rinne; Corrado Romano; Victoria R. Sanders; Rhonda E. Schnur; Eric J. Smeets; Alexander P. A. Stegmann; Asbjørg Stray-Pedersen; David A. Sweetser; Paulien A. Terhal; Kristian Tveten; Grace E. VanNoy; Petra F. de Vries; Jessica L. Waxler; Marcia Willing; Rolph Pfundt; Joris A. Veltman; R. Frank Kooy; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik , S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, 'De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746. https://doi.org/10.1038/s41431-018-0292-2
European Journal of Human Genetics, 27, 5, pp. 738-746
European journal of human genetics
European Journal of Human Genetics, 27, 5, pp. 738-746
European journal of human genetics
Academic Journal
Venugopal, Parvathy; Arts, Peer; Fox, Lucy C.; Simons, Annet; Hiwase, Devendra K.; Bardy, Peter G.; Swift, Annette; Ross, David M.; van Vulpen, Lize F. D.; Buijs, Arjan; Bolton, Kelly L.; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S. B.; Bournazos, Adam M.; Cooper, Sandra T.; Ha, Thuong Thi; Jackson, Matilda R.; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S.; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P.; Poplawski, Nicola K.; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L.; Hahn, Christopher N.; Scott, Hamish S.
Blood Advances. 8(13):3437-3443
Academic Journal
Werren, Elizabeth A.; LaForce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raúl; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E.
Nature Communications. 15(1)
Academic Journal
Stevens, Servi J. C.; van Dijk, Wanwisa; Souren, Nicole Y.; Macville, Merryn V. E.; van de Zande, Guillaume; Faas, Brigitte H. W.; de Koning, Bart; van den Wijngaard, Arthur; de Munnik, Sonja; Esteki, Masoud Zamani
American Journal of Medical Genetics. Part A; Feb2026, Vol. 200 Issue 2, p348-352, 5p
Academic Journal
Anne Hebert; Annet Simons; Janneke HM Schuurs-Hoeijmakers; Hans JPM Koenen; Evelien Zonneveld-Huijssoon; Stefanie SV Henriet; Ellen JH Schatorjé; Esther PAH Hoppenreijs; Erika KSM Leenders; Etienne JM Janssen; Gijs WE Santen; Sonja A de Munnik; Simon V van Reijmersdal; Esther van Rijssen; Simone Kersten; Mihai G Netea; Ruben L Smeets; Frank L van de Veerdonk; Alexander Hoischen; Caspar I van der Made
eLife, Vol 11 (2022)
Academic Journal
van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane ; Henneman, Lidewij ; Bekker, Mireille N. ; Bax, Caroline J. ; Pieters, Mijntje J. ; Bouman, Katelijne ; de Munnik, Sonja ; den Hollander, Nicolette S. ; Diderich, Karin E.M. ; Faas, Brigitte H.W. ; Feenstra, Ilse ; Go, Attie T.J.I. ; Hoffer, Mariëtte J.V. ; Joosten, Marieke ; Komdeur, Fenne L. ; Lichtenbelt, Klaske D. ; Lombardi, Maria P. ; Polak, Marike G. ; Jehee, Fernanda S. ; Schuring-Blom, Heleen ; Stevens, Servi J.C. ; Srebniak, Malgorzata I. ; Suijkerbuijk, Ron F. ; Tan-Sindhunata, Gita M. ; van der Meij, Karuna R.M. ; van Maarle, Merel C. ; Vernimmen, Vivian ; van Zelderen-Bhola, Shama L. ; van Ravesteyn, Nicolien T. ; Knapen, Maarten F.C.M. ; Macville, Merryn V.E. ; Galjaard, Robert-Jan H.
In The American Journal of Human Genetics 2 June 2022 109(6):1140-1152
Academic Journal
Ferdy S van Geest; Marcel E Meima; Kyra E Stuurman; Nicole I Wolf; Marjo S van der Knaap; Cláudia F Lorea; Fabiano O Poswar; Filippo Vairo; Nicola Brunetti-Pierri; Gerarda Cappuccio; Priyanka Bakhtiani; Sonja A de Munnik; Robin P Peeters; W Edward Visser; Stefan Groeneweg
J Clin Endocrinol Metab
van Geest, F S, Meima, M E, Stuurman, K E, Wolf, N I, van der Knaap, M S, Lorea, C F, Poswar, F O, Vairo, F, Brunetti-Pierri, N, Cappuccio, G, Bakhtiani, P,de Munnik , S A, Peeters, R P, Visser, W E & Groeneweg, S 2021, 'Clinical and Functional Consequences of C-Terminal Variants in MCT8 : A Case Series', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. 539-553. https://doi.org/10.1210/clinem/dgaa795
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. 539-53
van Geest, F S, Meima, M E, Stuurman, K E, Wolf, N I, van der Knaap, M S, Lorea, C F, Poswar, F O, Vairo, F, Brunetti-Pierri, N, Cappuccio, G, Bakhtiani, P,
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. 539-53
Academic Journal
Kuechler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; van Bokhoven, Hans; van den Boogaard, Marie Jose H.; Bramswig, Nuria; Büttner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; van Gassen, Koen; Graf, Elisabeth; van Haelst, Mieke; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; de Munnik, Sonja; Pastore, Matthew; Reis, André; Reuter, Miriam S.; Tegay, David H.; Veltman, Joris; Visser, Gepke; van Hasselt, Peter; Smeets, Eric E. J.; Vissers, Lisenka; Wieland, Thomas; Wissink, Willemijn; Yntema, Helger; Zink, Alexander Michael; Strom, Tim M.; Lüdecke, Hermann-Josef; Kleefstra, Tjitske; Wieczorek, Dagmar
Human Genetics. January 2015 134(1):97-109
Academic Journal
Knapp, Karen M.; Jenkins, Danielle E.; Sullivan, Rosie; Harms, Frederike L.; von Elsner, Leonie; Ockeloen, Charlotte W.; de Munnik, Sonja; Bongers, Ernie M. H. F.; Murray, Jennie; Pachter, Nicholas; Denecke, Jonas; Kutsche, Kerstin; Bicknell, Louise S.
European Journal of Human Genetics. 29(7):1110-1120
Academic Journal
Lee, Jae-Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi. F.; Lim, So-Hee; Brunel-Guitton, Catherine; Décarie, Jean-Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M.E.J.; Wagner, Justin D.; Boycott, Kym M.; Rahikkala, Elisa; Junna, Nella; Tyynismaa, Henna; Cuppen, Inge; Verbeek, Nienke E.; Stumpel, Connie T.R.M.; Willemsen, Michel A.; de Munnik, Sonja A.; Rouleau, Guy A.; Kim, Eunjoon; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Michaud, Jacques L.
Human Mutation. Jan 01, 2015 36(1):69-78
Academic Journal
Faas, Brigitte H. W.; Westra, Dineke; de Munnik, Sonja A.; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H.; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P.; Stegmann, Sander P. A.; Macville, Merryn; Sikkel, Esther; Coumans, Audrey; Wijnberger, Lia; Derks, Irma; et al
Academic Journal
Verdonschot, Job A. J.; Hellebrekers, Debby M. E. I.; van Empel, Vanessa P. M.; Heijligers, Malou; de Munnik, Sonja; Coonen, Edith; Dreesen, Jos C. M. F.; van den Wijngaard, Arthur; Brunner, Han G.; Esteki, Masoud Zamani; Heymans, Stephane R. B.; de Die-Smulders, Christine E. M.; Paulussen, Aimee D. C.
Academic Journal
Essers, Rick; Biglari, Sajjad; Janssen, Anouk E. J.; Stevens, Servi J. C.; Meekels, Jeroen; de Koning, Bart; Dreesen, Jos; Macville, Merryn V. E.; de Munnik, Sonja A.; Heijligers, Malou; van Golde, Ron; Naghdi, Marjan; de Wert, Guido; van Zelst-Stams, Wendy A. G.; Brunner, Han G.; van Buul-van Zwet, Marianne L.; Pieters, Math H. E. C.; Verpoest, Willem; van Zomeren, Koen; van Echten-Arends, Jannie; Derijck, Alwin H. A.; Mastenbroek, Sebastiaan; van den Wijngaard, Arthur; Coonen, Edith; Paulussen, Aimee; Esteki, Masoud Zamani
Academic Journal
Tom S Koemans; Tjitske Kleefstra; Melissa C Chubak; Max H Stone; Margot R F Reijnders; Sonja de Munnik; Marjolein H Willemsen; Michaela Fenckova; Connie T R M Stumpel; Levinus A Bok; Margarita Sifuentes Saenz; Kyna A Byerly; Linda B Baughn; Alexander P A Stegmann; Rolph Pfundt; Huiqing Zhou; Hans van Bokhoven; Annette Schenck; Jamie M Kramer
PLoS Genetics, Vol 13, Iss 10, p e1006864 (2017)
Academic Journal
Burrage, Lindsay C. ; Charng, Wu-Lin ; Eldomery, Mohammad K. ; Willer, Jason R. ; Davis, Erica E. ; Lugtenberg, Dorien ; Zhu, Wenmiao ; Leduc, Magalie S. ; Akdemir, Zeynep C. ; Azamian, Mahshid ; Zapata, Gladys ; Hernandez, Patricia P. ; Schoots, Jeroen ; de Munnik, Sonja A. ; Roepman, Ronald ; Pearring, Jillian N. ; Jhangiani, Shalini ; Katsanis, Nicholas ; Vissers, Lisenka E.L.M. ; Brunner, Han G. ; Beaudet, Arthur L. ; Rosenfeld, Jill A. ; Muzny, Donna M. ; Gibbs, Richard A. ; Eng, Christine M. ; Xia, Fan ; Lalani, Seema R. ; Lupski, James R. ; Bongers, Ernie M.H.F. ; Yang, Yaping
In The American Journal of Human Genetics 3 December 2015 97(6):904-913
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