학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Zawerton, Ash ; Mignot, Cyril ; Sigafoos, Ashley ; Blackburn, Patrick R. ; Haseeb, Abdul ; McWalter, Kirsty ; Ichikawa, Shoji ; Nava, Caroline ; Keren, Boris ; Charles, Perrine ; Marey, Isabelle ; Tabet, Anne-Claude ; Levy, Jonathan ; Perrin, Laurence ; Hartmann, Andreas ; Lesca, Gaetan ; Schluth-Bolard, Caroline ; Monin, Pauline ; Dupuis-Girod, Sophie ; Guillen Sacoto, Maria J. ; Schnur, Rhonda E. ; Zhu, Zehua ; Poisson, Alice ; El Chehadeh, Salima ; Alembik, Yves ; Bruel, Ange-Line ; Lehalle, Daphné ; Nambot, Sophie ; Moutton, Sébastien ; Odent, Sylvie ; Jaillard, Sylvie ; Dubourg, Christèle ; Hilhorst-Hofstee, Yvonne ; Barbaro-Dieber, Tina ; Ortega, Lucia ; Bhoj, Elizabeth J. ; Masser-Frye, Diane ; Bird, Lynne M. ; Lindstrom, Kristin ; Ramsey, Keri M. ; Narayanan, Vinodh ; Fassi, Emily ; Willing, Marcia ; Cole, Trevor ; Salter, Claire G. ; Akilapa, Rhoda ; Vandersteen, Anthony ; Canham, Natalie ; Rump, Patrick ; Gerkes, Erica H. ; Klein Wassink-Ruiter, Jolien S. ; Bijlsma, Emilia ; Hoffer, Mariëtte ; Vargas, Marcelo ; Wojcik, Antonina ; Cherik, Florian ; Francannet, Christine ; Rosenfeld, Jill A. ; Machol, Keren ; Scott, Daryl A. ; Bacino, Carlos A. ; Wang, Xia ; Clark, Gary D. ; Bertoli, Marta ; Zwolinski, Simon ; Thomas, Rhys H. ; Akay, Ela ; Chang, Richard C. ; Bressi, Rebekah ; Sanchez Russo, Rossana ; Srour, Myriam ; Russell, Laura ; Goyette, Anne-Marie E. ; Dupuis, Lucie ; Mendoza-Londono, Roberto ; Karimov, Catherine ; Joseph, Maries ; Nizon, Mathilde ; Cogné, Benjamin ; Kuechler, Alma ; Piton, Amélie ; Klee, Eric W. ; Lefebvre, Véronique ; Clark, Karl J. ; Depienne, Christel
In Genetics in Medicine March 2020 22(3):524-537
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle; Rooney, Kathleen; Levy, Michael; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Maas, Saskia M.; Vissers, Lisenka; de Vries, Bert; Pfundt, Rolph; Elting, Mariet; van Hagen, Johanna; Verbeek, Nienke E; Jongmans, Marjolijn C.J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Geneviève, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles; Õunap, Katrin; Hoffer, Mariette; Nezarati, Marjan; van den Boogaard, Marie-José; Tedder, Matthew; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; Mccann, Emma; Mroczkowski, Henry; Jansen, Sandra; Donker Kaat, Laura; Duijkers, Floor; Stuurman, Kyra E.; Mannens, Marcel M.A.M; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M
Hum Genet
Human Genetics, 143, 6, pp. 761-773
Human genetics
Human Genetics, 143, 6, pp. 761-773
Human genetics
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Academic Journal
Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; Lachlan, Katherine; Lam, Wayne; Lees, Melissa
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Dec2019, Vol. 181 Issue 4, p557-564, 8p
Academic Journal
Plati, Stephani Klingeman ; Hoffer, Mariette ; Jansen, Fenna ; Haak, Monique ; Oepkes, Dick ; de Boer, Marjon
In American Journal of Obstetrics and Gynecology January 2013 208(1) Supplement:S257-S257
Academic Journal
Gerasimenko, Anna; Luton, Marie-Pierre; Heide, Solveig; Mignot, Cyril; Phelippeau, Fanny; Charles, Perrine; Ruault, Valentin; Tharreau, Mylene; Santen, Gijs; Hoffer, Mariette; Isidor, Bertrand; Nizon, Mathilde; Maray, Isabelle; Gerard, Benedicte; Garde, Aurore; Denomme-Pichon, Anne-Sophie; Mau-Them, Frederic Tran; Le Caignec, Cedric; Peluso, Francesca; Fradin, Melanie; Lehalle, Daphne; Heron, Delphine
Academic Journal
Mulhern, Maureen; Stumpel, Constance; Stong, Nicholas; Brunner, Han; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander; Kukolich, Mary; Telegrafi, Aida; Lehman, Anna; Lopez-Rangel, Elena; Houcinat, Nada; Barth, Magalie; den Hollander, Nicolettè; Hoffer, Mariette; Weckhuysen, Sarah; Roovers, Jolien; Djemie, Tania; Barca, Diana; Ceulemans, Berten; Craiu, Dana; Lemke, Johannes; Korff, Christian; Mefford, Heather; Meyers, Candace; Siegler, Zsuzsanna; Hiatt, Susan; Cooper, Gregory; Bebin, E. Martina; Snijders Blok, Lot; Veenstra-Knol, Hermine; Baugh, Evan; Brilstra, Eva; Volker-Touw, Catharina; van Binsbergen, Ellen; Revah-Politi, Anya; Pereira, Elaine; Mcbrian, Danielle; Pacault, Mathilde; Isidor, Bertrand; Le Caignec, Cédric; Gilbert-Dussardier, Brigitte; Bilan, Frédéric; Heinzen, Erin; Goldstein, David; Stevens, Servi; Sands, Tristan
Annals of Neurology, 84, 5, pp. 788-795
Annals of Neurology, Vol. 84, No 5 (2018) pp. 788-795
Annals of Neurology
Annals of Neurology, Vol. 84, No 5 (2018) pp. 788-795
Annals of Neurology
Academic Journal
Koopmans, Marije; Hoffer, Mariette; van Bunderen, Patrick; Bijlsma, Emilia; Haak, Monique; Yntema, Helger; den Hollander, Nicolette
Prenatal Diagnosis. Jun 01, 2012 32 Suppl 1:111-111
Academic Journal
Hoffer, Mariëtte; Zondervan, Hans; Chitoe-Ramawadhdoebe, Sharmila; Groenewegen, Lizet; Teunissen, Kathinka; de Wilt, Edwin; van Bunderen, Patrick; Boon, Elles; den Hollander, Nicolette; Klumper, Frans
Prenatal Diagnosis. Jun 01, 2012 32 Suppl 1:75-76
Academic Journal
Boormans, Elisabeth; Birnie, Erwin; Hoffer, Mariëtte; Macville, Merryn; Galjaard, Robert-Jan; Schuring-Blom, Gijsbertha; Bhola, Shama; Huijsdens, Karin; Smits, Arie; Lith, Jan
Academic Journal
Hidalgo, Rocio Acuna; De Koning, Maayke; Garikano, Kristina Ibanez; Bertana, Andrea; Schelker, Max; Lehtinen, Ilona; Gonzalez, Lourdes Rosano; Hoffer, Mariette; Suerink, Manon; Santen, Gijs
Academic Journal
Srebniak, Malgorzata I.; Jehee, Fernanda S.; Joosten, Marieke; Boter, Marjan; de Valk, Walter; van der Helm, Robert; Sistermans, Erik; Voorhoeve, Els; Bhola, Shama; Hoffer, Mariette; den Hollander, Nicolette; Macville, Merryn; Van Opstal, Diane
Srebniak, M I, Jehee, F S, Joosten, M, Boter, M, de Valk, W, van der Helm, R, Sistermans, E, Voorhoeve, E, Bhola, S, Hoffer, M, den Hollander, N, Macville, M & Van Opstal, D 2022, 'NIPD for translocation carriers-yes please or no go?', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 105-105.
Academic Journal
de Koning, Maayke; Yousaf, Hammad; Gilmore, Kelly; Hoffer, Mariette; Kellaris, Georgios; van Scheltema, Phebe Adama; Haak, Monique; Peeters-Scholte, Cacha; Heron, Delphine; Keren, Boris; El Akouri, Karen; Lanone, Sophie; Dagouassat, Maylis; Yalcin, Binnaz; Vora, Neeta; Suerink, Manon; Davis, Erica; Santen, Gijs
Academic Journal
Pelgrims, Elise; Hannes, Laurens; Atzori, Marta; Attanasio, Catia; Lynch, Sally Ann; Hoffer, Mariette; van Haeringen, Arie; Swillen, Ann; Breckpot, Jeroen
Academic Journal
Galjaard, Robert-Jan; Henneman, Lidewij; Macville, Merryn; Bax, Caroline; Bekker, Mireille; De Die-Smulders, Christine; Feenstra, Ilse; Hoffer, Mariette; Den Hollander, Nicolette; Van Langen, Irene; Lichtenbelt, Klaske; Lombardi, Paola; Van Maarle, Merel; Van Der Meij, Karuna; Pieters, Mijntje; Schuring-Blom, Heleen; Sikkel, Esther; Stevens, Servi; Suijkerbuijk, Ron; Van Der Ven, Jeanine; Van Opstal, Diane; Weiss, Janneke; Sistermans, Erik
Galjaard, R-J, Henneman, L, Macville, M, Bax, C, Bekker, M, De Die-Smulders, C, Feenstra, I, Hoffer, M, Den Hollander, N, Van Langen, I, Lichtenbelt, K, Lombardi, P, Van Maarle, M, Van Der Meij, K, Pieters, M, Schuring-Blom, H, Sikkel, E, Stevens, S, Suijkerbuijk, R, Van Der Ven, J, Van Opstal, D, Weiss, J & Sistermans, E 2018, 'Implementing NIPT as part of a national prenatal screening program: The Dutch TRIDENT studies', Prenatal Diagnosis, vol. 38.
Academic Journal
Heesterbeek, Catharina; Aukema, Sietse; Galjaard, Robert-Jan; Boon, Elles; Srebniak, Malgorzata; Bouman, Katelijne; Faas, Brigitte H. W.; Govaerts, Lutgarde C. P.; Hoffer, Mariette; Den Hollander, Nicolette; Lichtenbelt, Klaske D.; van Maarle, Merel C.; Schuurman, Lisanne van Prooyen; van Rij, Maartje C.; Schuring-Blom, Heleen; Stevens, Servi; Tan-Sindhunata, Gita; Esteki, Masoud Zamani; de Die-Smulders, Christine; Tjan-Heijnen, Vivianne C. G.; Henneman, Lidewij; Sistermans, Erik; Macville, Merryn
Academic Journal
Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta; Kaur, Anupriya; Kaur, Parmeet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia; Capuccio, Gerarda; Brunetti-Pierri, Nicola; Kortum, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra; Wilke, Martina; Thompson, Michelle; Bebin, Martina; Bijlsma, Emilia; Hoffer, Mariette; Peters-Scholte, Cacha; Slavotinek, Anne; Weiss, William; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Yachelevich, Naomi; Wilaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloechner, Chiara; Kamphausen, Susanne; Jamra, Rami; Arelin, Maria; Innes, Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damien; de Burca, Anna; Kini, Usha; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher
Academic Journal
Academic Journal
Plati, Stephani Klingeman; Hoffer, Mariette; Jansen, Fenna; Haak, Monique; Oepkes, Dick; de Boer, Marjon
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[AR] Hoffer, Mariëtte
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