학술논문
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'학술논문'
에서 검색결과 218건 | 목록
1~20
Academic Journal
Fairall, Louise; Sirvydis, Kristupas; Turnbull, Robert E.; Knottnerus, Suzan JG; Gonchar, Oksana; Muskett, Frederick W.; Jukes-Jones, Rebekah; van Brussel, Lonneke; van de Geer, Ellen; van Gassen, Koen; Badenhorst, Paul; Johnson, Diana; Terhal, Paulien A.; van Hasselt, Peter M.; van Jaarsveld, Richard H.; Schwabe, John WR
Nature Communications. 16(1)
Academic Journal
Paulien Terhal; Anton J. Venhuizen; Davor Lessel; Wen-Hann Tan; Abdulrahman Alswaid; Regina Grün; Hamad I. Alzaidan; Simon von Kroge; Nada Ragab; Maja Hempel; Christian Kubisch; Eduardo Novais; Alba Cristobal; Kornelia Tripolszki; Peter Bauer; Björn Fischer-Zirnsak; Rutger A.J. Nievelstein; Atty van Dijk; Peter Nikkels; Ralf Oheim; Heidi Hahn; Aida Bertoli-Avella; Madelon M. Maurice; Uwe Kornak
The American Journal of Human Genetics. 110:1470-1481
Academic Journal
Arts, Rob J.W. ; Bijker, Else M. ; Bruno, Mariolina ; Hobo, Willemijn ; Hoppenreijs, Esther ; de Jonge, Marien I. ; van Laarhoven, Arjan ; van der Molen, Renate ; Oud, Manon ; Schatorje, Ellen J.H. ; Smeets, Ruben ; Sprenkeler, Evelien G.G. ; Stol, Kim ; Verhagen, Lilly M. ; Zonneveld-Huijssoon, Evelien ; Vorsteveld, Emil E. ; Van der Made, Caspar I. ; Smeekens, Sanne P. ; Schuurs-Hoeijmakers, Janneke H. ; Astuti, Galuh ; Diepstra, Heleen ; Gilissen, Christian ; Hoenselaar, Evelien ; Janssen, Alice ; van Roozendaal, Kees ; Engelen, Jettie Sikkema-van ; Steyaert, Wouter ; Weiss, Marjan M. ; Yntema, Helger G. ; Mantere, Tuomo ; AlZahrani, Mofareh S. ; van Aerde, Koen ; Derfalvi, Beata ; Faqeih, Eissa Ali ; Henriet, Stefanie S.V. ; van Hoof, Elise ; Idressi, Eman ; Issekutz, Thomas B. ; Jongmans, Marjolijn C.J. ; Keski-Filppula, Riikka ; Krapels, Ingrid ; te Loo, Maroeska ; Mulders-Manders, Catharina M. ; ten Oever, Jaap ; Potjewijd, Judith ; Sarhan, Nora Tarig ; Slot, Marjan C. ; Terhal, Paulien A. ; Thijs, Herman ; Vandersteen, Anthony ; Vanhoutte, Els K. ; van de Veerdonk, Frank ; van Well, Gijs ; Netea, Mihai G. ; Simons, Annet ; Hoischen, Alexander
In Clinical Immunology November 2024 268
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Ham, Hyoungjun; Jing, Huie; Lamborn, Ian; Kober, Megan; Koval, Alexey; Berchiche, Yamina; Anderson, D. Eric; Druey, Kirk; Mandl, Judith; Isidor, Bertrand; Ferreira, Carlos; Freeman, Alexandra; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew; Schmid, Jana Pachlopnik; Kuhns, Douglas; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki; Matthews, Helen; Simons, Cas; Taft, Ryan; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle; Kong, Heidi; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val; Stratakis, Constantine; Rodriguez-Quevedo, Maria; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; Mcwalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif; Casanova, Jean-Laurent; Makitie, Outi; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald; Goodnow, Christopher; Sakmar, Thomas; Billadeau, Daniel; Küry, Sébastien; Katanaev, Vladimir; Zhang, Yu; Lenardo, Michael; Su, Helen
Science, 385, 6715, pp. eadd8947
Science 385:eadd8947 (2024)
Science 385:eadd8947 (2024)
Academic Journal
Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Makitie, Outi; Cormier-Daire, Valerie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A.; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka E. L. M.; Gardeitchik, Thatjana; Aarts, Lonneke A. M.; Rinne, Tuula; Terhal, Paulien A.; Verbeek, Nienke E.; Zuurbier, Linda C.; Plomp, Astrid S.; Wessels, Marja W.; de Man, Stella A.; Bouman, Arjan; Bird, Lynne M.; Saadeh-Haddad, Reem; Sacoto, Maria J. Guillen; Person, Richard; Gooch, Catherine; Hurst, Anna C. E.; Thompson, Michelle L.; Hiatt, Susan M.; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Mori, Mari; Hickey, Scott E.; Hunter, Jesse M.; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Mau-Them, Frederic Tran; Huber, Celine; Gordon, Christopher T.; Taylan, Fulya; Makitie, Riikka E.; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J.; Hildebrand, Michael S.; Coman, David; Mucca, Marion Aubert; Thevenon, Julien; Laffargue, Fanny; Bilan, Frederic; Pebrel-Richard, Celine; Yoon, Grace; Axford, Michelle M.; Perez-Jurado, Luis A.; Sevilla-Porras, Marta; Black, Douglas L.; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio
Academic Journal
van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella Avagliano; Baban, Anwar; Bassetti, Jennifer Alisha; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel Morales; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, K; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet
Hum Mutat
Human Mutation, 43, 10, pp. 1377-1395
Human Mutation: Variation, Informatics and Disease, vol 43, iss 10
Human Mutation, 43, 10, pp. 1377-1395
Human Mutation: Variation, Informatics and Disease, vol 43, iss 10
Academic Journal
Goodman, Lindsey D. ; Cope, Heidi ; Nil, Zelha ; Ravenscroft, Thomas A. ; Charng, Wu-Lin ; Lu, Shenzhao ; Tien, An-Chi ; Pfundt, Rolph ; Koolen, David A. ; Haaxma, Charlotte A. ; Veenstra-Knol, Hermine E. ; Wassink-Ruiter, Jolien S. Klein ; Wevers, Marijke R. ; Jones, Melissa ; Walsh, Laurence E. ; Klee, Victoria H. ; Theunis, Miel ; Legius, Eric ; Steel, Dora ; Barwick, Katy E.S. ; Kurian, Manju A. ; Mohammad, Shekeeb S. ; Dale, Russell C. ; Terhal, Paulien A. ; van Binsbergen, Ellen ; Kirmse, Brian ; Robinette, Bethany ; Cogné, Benjamin ; Isidor, Bertrand ; Grebe, Theresa A. ; Kulch, Peggy ; Hainline, Bryan E. ; Sapp, Katherine ; Morava, Eva ; Klee, Eric W. ; Macke, Erica L. ; Trapane, Pamela ; Spencer, Christopher ; Si, Yue ; Begtrup, Amber ; Moulton, Matthew J. ; Dutta, Debdeep ; Kanca, Oguz ; Wangler, Michael F. ; Yamamoto, Shinya ; Bellen, Hugo J. ; Tan, Queenie K.-G.
In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691
Academic Journal
Pihlström, Sandra; Oghabian, Ali; Määttä, Kirsi; Legebeke, Jelmer; Mäkitie, Riikka E; Campeau, Philippe M; Terhal, Paulien A; Botto, Lorenzo D; Olkkonen, Vesa M; Mäkitie, Outi; Pekkinen, Minna
JBMR Plus; Oct2025, Vol. 9 Issue 10, p1-15, 15p
Academic Journal
Connaughton, Dervla; Dai, Rufeng; Owen, Danielle; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle M.N.; St-Germain, Jonathan; Blok, Lot Snijders; Vino, Arianna; Klämbt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas; Majmundar, Amar; Buerger, Florian; Onuchic-Whitford, Ana; Youying, Mao; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van Der Ven, Amelie; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel; Hermle, Tobias; Alders, Mariëlle; Bartolomaeus, Tobias; Bauer, Stuart; Baum, Michelle; Brilstra, Eva; Challman, Thomas; Zyskind, Jacob; Costin, Carrie; Dipple, Katrina; Duijkers, Floor; Ferguson, Marcia; Fitzpatrick, David; Fick, Roger; Glass, Ian; Hulick, Peter; Kline, Antonie; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa; Wentzensen, Ingrid; Mefford, Heather; Platzer, Konrad; Povolotskaya, Inna; Savatt, Juliann; Shcherbakova, Natalia; Senguttuvan, Prabha; Squire, Audrey; Stein, Deborah; Thiffault, Isabelle; Voinova, Victoria; Somers, Michael J.G.; Ferguson, Michael; Traum, Avram; Daouk, Ghaleb; Daga, Ankana; Rodig, Nancy; Terhal, Paulien; van Binsbergen, Ellen; Eid, Loai; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze; Ahram, Dina; Gharavi, Ali; Reutter, Heiko; Rehm, Heidi; Mc Arthur, Daniel; Lek, Monkol; Laricchia, Kristen; Lifton, Richard; Xu, Hong; Mane, Shrikant; Sanna-Cherchi, Simone; Sharrocks, Andrew; Raught, Brian; Fisher, Simon; Bouchard, Maxime; Khokha, Mustafa; Shril, Shirlee; Hildebrandt, Friedhelm
American Journal of Human Genetics, 107, 4, pp. 727-742
The American Journal of Human Genetics
The American Journal of Human Genetics
Academic Journal
Engwerda, Aafke; Leenders, Erika K. S. M.; Frentz, Barbara; Terhal, Paulien A.; Löhner, Katharina; de Vries, Bert B. A.; Dijkhuizen, Trijnie; Vos, Yvonne J.; Rinne, Tuula; van den Berg, Maarten P.; Roofthooft, Marc T. R.; Deelen, Patrick; van Ravenswaaij-Arts, Conny M. A.; Kerstjens-Frederikse, Wilhelmina S.
European Journal of Human Genetics. 29(11):1669-1676
Academic Journal
Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van der Smagt, Jasper J.; van Gassen, Koen L. I.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske
Molecular Psychiatry. 26(6):2013-2024
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; 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 PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Academic Journal
Tolulope Sokoya; Jan Parolek; Mads Møller Foged; Dmytro I Danylchuk; Manuel Bozan; Bingshati Sarkar; Angelika Hilderink; Michael Philippi; Lorenzo D Botto; Paulien A Terhal; Outi Mäkitie; Jacob Piehler; Yeongho Kim; Christopher G Burd; Andrey S Klymchenko; Kenji Maeda; Joost CM Holthuis
eLife, Vol 11 (2022)
Academic Journal
Terhal, Paulien A; Vlaar, Judith M; Middelkamp, Sjors; Nievelstein, Rutger A J; Nikkels, Peter G J; Ross, Jamila; Créton, Marijn; Bos, Jeroen W; Voskuil-Kerkhof, Elsbeth S M; Cuppen, Edwin; Knoers, Nine; van Gassen, Koen L I
European Journal of Human Genetics. 28:31-39
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
Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Küchler, Alma; De Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J.; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian
Brain 141, 2299-2311 (2018)
Academic Journal
Glen R. Monroe; Albertien M. van Eerde; Federico Tessadori; Karen J. Duran; Sanne M. C. Savelberg; Johanna C. van Alfen; Paulien A. Terhal; Saskia N. van der Crabben; Klaske D. Lichtenbelt; Sabine A. Fuchs; Johan Gerrits; Markus J. van Roosmalen; Koen L. van Gassen; Mirjam van Aalderen; Bart G. Koot; Marlies Oostendorp; Marinus Duran; Gepke Visser; Tom J. de Koning; Francesco Calì; Paolo Bosco; Karin Geleijns; Monique G. M. de Sain-van der Velden; Nine V. Knoers; Jeroen Bakkers; Nanda M. Verhoeven-Duif; Gijs van Haaften; Judith J. Jans
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Academic Journal
Roessler, Helen I; Volker-Touw, Catharina M L; Terhal, Paulien A; van Haaften, Gijs; van Haelst, Mieke M
Roessler, H I, Volker-Touw, C M L, Terhal , P A, van Haaften, G & van Haelst, M M 2018, 'Cantú syndrome, the changing phenotype: A report of the two oldest Dutch patients', Clinical Dysmorphology, vol. 27, no. 3, pp. 78-83. https://doi.org/10.1097/MCD.0000000000000219
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; Universitat Autònoma de Barcelona
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