학술논문
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'학술논문'
에서 검색결과 115건 | 목록
1~20
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations
Academic Journal
Kuehn, Hye Sun; Gil Silva, Agustin A.; Klangkalya, Natchanun; Esteve-Sole, Ana; Goel, Shubham; Niemela, Julie E.; Stoddard, Jennifer L.; Chong, Hey; Williams, Kelli; Ip, Winnie; Framil Seoane, Mario; Loganathan, Sathish Kumar; Anantharachagan, Ariharan; García-Soidán, Ana; Shaffren, Serena; Bindernagel, Constance; Mendez, Philip; Miller, Rahim Z.; Abolhassani, Hassan; Hoytema van Konijnenburg, David P.; Geerlinks, Ashley V.; Cabanillas, Diana; Zonneveld-Huijssoon, Evelien; Rutgers, Abraham; Tangye, Stuart; Ma, Cindy; Grey, Alice; O'Young, Patrick; Aldave Becerra, Juan Carlos; Lyons, Jonathan J.; White, Andrew A.; Claiborne, Michael; Doroudchi, Mohammad-Ali; Modena, Brian D.; Milner, Joshua D.; Solanich, Xavier; Farela Neves, João; Platt, Craig D.; Hammarström, Lennart; Routes, John M.; Verbsky, James; Butte, Manish J.; Lesmana, Harry; Griffiths, William J. H.; Kumararatne, Dinakantha; Hauck, Fabian; Allende, Luis M.; Rodríguez-Gallego, Carlos; Elfeky, Reem; Rubin, Tamar; Boztug, Kaan; Fleisher, Thomas A.; Rosenzweig, Sergio D.
Blood Advances. 10(5):1522-1536
Academic Journal
Annelotte J. Duintjer; Robbert G.M. Bredius; J. Merlijn van den Berg; Lisette van de Corput; Willem A. Dik; Mariëlle E. van Gijn; Stefanie S. Henriet; Evelien A. Kemper; Taco W. Kuijpers; G. Elizabeth Legger; Joris M. van Montfrans; Liesbeth H. Schölvinck; Clementien L. Vermont; Els Voorhoeve; Gert Weijman; Gijs T.J. van Well; Evelien Zonneveld-Huijssoon; Mirjam van der Burg; Maartje Blom
Journal of Human Immunity, Vol 2, Iss 2, Pp - (2026)
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
Nathan Buijsse; Floor E. Jansen; Charlotte W. Ockeloen; Marjan J. A. van Kempen; Shimriet Zeidler; Marjolein H. Willemsen; Emanuela Scarano; Sonia Monticone; Evelien Zonneveld‐Huijssoon; Karen J. Low; Allan Bayat; Sanjay M. Sisodiya; Debopam Samanta; Gaetan Lesca; Danielle de Jong; Jaqcues C. Giltay; Nienke E. Verbeek; Tjitske Kleefstra; Eva H. Brilstra; Danique R. M. Vlaskamp
Epilepsia Open
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Epilepsia Open, 8, 4, pp. 1300-1313
Buijsse, N, Jansen, F E, Ockeloen, C W, van Kempen, M J A, Zeidler, S, Willemsen, M H, Scarano, E, Monticone, S,Zonneveld -Huijssoon , E, Low, K J, Bayat, A, Sisodiya, S M, Samanta, D, Lesca, G, de Jong, D, Giltay, J C, Verbeek, N E, Kleefstra, T, Brilstra, E H & Vlaskamp, D R M 2023, ' Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome ', Epilepsia open, vol. 8, no. 4, pp. 1300-1313 . https://doi.org/10.1002/epi4.12799
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Epilepsia Open, 8, 4, pp. 1300-1313
Buijsse, N, Jansen, F E, Ockeloen, C W, van Kempen, M J A, Zeidler, S, Willemsen, M H, Scarano, E, Monticone, S,
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Alessandra Rossi; Lot Snijders Blok; Sonja Neuser; Chiara Klöckner; Konrad Platzer; Laurence Olivier Faivre; Heike Weigand; Maria L. Dentici; Marco Tartaglia; Marcello Niceta; Paolo Alfieri; Siddharth Srivastava; David Coulter; Lacey Smith; Kristin Vinorum; Gerarda Cappuccio; Nicola Brunetti‐Pierri; Deniz Torun; Mutluay Arslan; Mathilde F. Lauridsen; Oliver Murch; Rachel Irving; Sally A. Lynch; Sarju G. Mehta; Jenny Carmichael; Evelien Zonneveld‐Huijssoon; Bert de Vries; Tjitske Kleefstra; Katrine M. Johannesen; Ian T. Westphall; Susan S. Hughes; Sarah Smithson; Julie Evans; Tracy Dudding‐Byth; Marleen Simon; Ellen van Binsbergen; Johanna C. Herkert; Gea Beunders; Henry Oppermann; Mert Bakal; Rikke S. Møller; Guido Rubboli; Allan Bayat
Clinical Genetics, 104, 2, pp. 186-197
Rossi, A, Blok, L S, Neuser, S, Klöckner, C, Platzer, K, Faivre, L O, Weigand, H, Dentici, M L, Tartaglia, M, Niceta, M, Alfieri, P, Srivastava, S, Coulter, D, Smith, L, Vinorum, K, Cappuccio, G, Brunetti-Pierri, N, Torun, D, Arslan, M, Lauridsen, M F, Murch, O, Irving, R, Lynch, S A, Mehta, S G, Carmichael, J,Zonneveld -Huijssoon , E, de Vries, B, Kleefstra, T, Johannesen, K M, Westphall, I T, Hughes, S S, Smithson, S, Evans, J, Dudding-Byth, T, Simon, M, van Binsbergen, E, Herkert, J C, Beunders, G, Oppermann, H, Bakal, M, Møller, R S, Rubboli, G & Bayat, A 2023, ' POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum ', Clinical Genetics, vol. 104, no. 2, pp. 186-197 . https://doi.org/10.1111/cge.14353
Rossi, A, Blok, L S, Neuser, S, Klöckner, C, Platzer, K, Faivre, L O, Weigand, H, Dentici, M L, Tartaglia, M, Niceta, M, Alfieri, P, Srivastava, S, Coulter, D, Smith, L, Vinorum, K, Cappuccio, G, Brunetti-Pierri, N, Torun, D, Arslan, M, Lauridsen, M F, Murch, O, Irving, R, Lynch, S A, Mehta, S G, Carmichael, J,
Academic Journal
Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh ; Relator, Raissa ; Levy, Michael A. ; Kerkhof, Jennifer ; McConkey, Haley ; Brooks, Alice ; Zonneveld-Huijssoon, Evelien ; Gerkes, Erica H. ; Tedder, Matthew L. ; Vissers, Lisenka ; Salzano, Emanuela ; Piccione, Maria ; Asaftei, Sebastian Dorin ; Carli, Diana ; Mussa, Alessandro ; Shukarova-Angelovska, Elena ; Trajkova, Slavica ; Brusco, Alfredo ; Merla, Giuseppe ; Alders, Marielle M. ; Bouman, Arjan ; Sadikovic, Bekim
In Genetics in Medicine March 2024 26(3)
Academic Journal
Brunger, Anne F; Nienhuis, Hans L A; Bijzet, Johan; Zonneveld-Huijssoon, Evelien; Sanders, Jan S F; Legger, Geertje E; Gans, Reinold O B; Hazenberg, Bouke P C
Amyloid. 31:82-84
Academic Journal
Kim Elsink; Manon M. H. Huibers; Iris H. I. M. Hollink; Lars T. van der Veken; Robert F. Ernst; Annet Simons; Evelien Zonneveld-Huijssoon; Annemieke H. van der Hout; Kristin M. Abbott; Alexander Hoischen; Marc Pieterse; Taco W. Kuijpers; Joris M. van Montfrans; Mariëlle E. van Gijn
European Journal of Human Genetics, 29, 1, pp. 20-28
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
Lezzerini, Marco; Penzo, Marianna; O'Donohue, Marie-Françoise; Marques dos Santos Vieira, Carolina; Saby, Manon; Elfrink, Hyung; Diets, Illja; Hesse, Anne-Marie; Couté, Yohann; Gastou, Marc; Nin-Velez, Alexandra; Nikkels, Peter; Olson, Alexandra; Zonneveld-Huijssoon, Evelien; Jongmans, Marjolijn; Zhang, Guangjun; van Weeghel, Michel; Houtkooper, Riekelt; Wlodarski, Marcin; Kuiper, Roland; Bierings, Marc; van der Werff ten Bosch, Jutte; Leblanc, Thierry; Montanaro, Lorenzo; Dinman, Jonathan; Da Costa, Lydie; Gleizes, Pierre-Emmanuel; Macinnes, Alyson; O’donohue, Marie-Françoise
Nucleic Acids Res
Nucleic Acids Research, 48, 2, pp. 770-787
Nucleic Acids Research, 48, 2, pp. 770-787
Academic Journal
Konrad, Enrico D.H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C.J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane
Genet Med
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S,Zonneveld -Huijssoon , E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S,
Academic Journal
Davor Lessel; Daniela M. Zeitler; Margot R. F. Reijnders; Andriy Kazantsev; Fatemeh Hassani Nia; Alexander Bartholomäus; Victoria Martens; Astrid Bruckmann; Veronika Graus; Allyn McConkie-Rosell; Marie McDonald; Bernarda Lozic; Ee-Shien Tan; Erica Gerkes; Jessika Johannsen; Jonas Denecke; Aida Telegrafi; Evelien Zonneveld-Huijssoon; Henny H. Lemmink; Breana W. M. Cham; Tanja Kovacevic; Linda Ramsdell; Kimberly Foss; Diana Le Duc; Diana Mitter; Steffen Syrbe; Andreas Merkenschlager; Margje Sinnema; Bianca Panis; Joanna Lazier; Matthew Osmond; Taila Hartley; Jeremie Mortreux; Tiffany Busa; Chantal Missirian; Pankaj Prasun; Sabine Lüttgen; Ilaria Mannucci; Ivana Lessel; Claudia Schob; Stefan Kindler; John Pappas; Rachel Rabin; Marjolein Willemsen; Thatjana Gardeitchik; Katharina Löhner; Patrick Rump; Kerith-Rae Dias; Carey-Anne Evans; Peter Ian Andrews; Tony Roscioli; Han G. Brunner; Chieko Chijiwa; M. E. Suzanne Lewis; Rami Abou Jamra; David A. Dyment; Kym M. Boycott; Alexander P. A. Stegmann; Christian Kubisch; Ene-Choo Tan; Ghayda M. Mirzaa; Kirsty McWalter; Tjitske Kleefstra; Rolph Pfundt; Zoya Ignatova; Gunter Meister; Hans-Jürgen Kreienkamp
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Academic Journal
Scala, Marcello; Zonneveld-Huijssoon, Evelien; Brienza, Marianna; Mecarelli, Oriano; van der Hout, Annemarie H.; Zambrelli, Elena; Turner, Katherine; Zara, Federico; Peron, Angela; Vignoli, Aglaia; Striano, Pasquale
neurogenetics. 22(1):87-94
Academic Journal
Hebert, Anne; Simons, Annet; Schuurs-Hoeijmakers, Janneke HM; Koenen, Hans JPM; Zonneveld-Huijssoon, Evelien; Henriet, Stefanie SV; Schatorjé, Ellen JH; Hoppenreijs, Esther PAH; Leenders, Erika KSM; Janssen, Etienne JM; Santen, Gijs WE; de Munnik, Sonja A; van Reijmersdal, Simon V; van Rijssen, Esther; Kersten, Simone; Netea, Mihai G; Smeets, Ruben L; van de Veerdonk, Frank L; Hoischen, Alexander; van der Made, Caspar I
eLife
eLife, Vol 11 (2022)
Elife, 11
Elife
eLife, Vol 11 (2022)
Elife, 11
Elife
Academic Journal
Kim Elsink; Manon M. H. Huibers; Iris H. I. M. Hollink; Annet Simons; Evelien Zonneveld-Huijssoon; Lars T. van der Veken; Helen L. Leavis; Stefanie S. V. Henriet; Marcel van Deuren; Frank L. van de Veerdonk; Judith Potjewijd; Dagmar Berghuis; Virgil A. S. H. Dalm; Clementien L. Vermont; Annick A. J. M. van de Ven; Annechien J. A. Lambeck; Kristin M. Abbott; P. Martin van Hagen; Godelieve J. de Bree; Taco W. Kuijpers; Geert W. J. Frederix; Mariëlle E. van Gijn; Joris M. van Montfrans; the Genetics First for Primary Immunodeficiency Disorders Consortium; Aerde van, KJ; Altenburg, J; Armbrust W; Barendregt, BH; Berg van den, JM; Bredius, RGM; Buddingh, EP; Burg van der, M; Ellerbroek, PM; Ernst, RF; Fraaij, PLA; Hermans, M; Hoischen, A; Hout van der, AH; Jansen, MHA; Jolink, H; Jonkers, RE; Laar van, JAM; Leeuw de, K; Legger, GE; Leijten, EFA; Limper, M; Lindemans, CA; Oever ten, J; Pieterse, M; Rombach, SM; Rossum van, AMC; Rutgers, A; Santen, GWE; Schölvinck, EH; Simon, A; Stol, K; Vervenne RML
Frontiers in Immunology, Vol 12 (2021)
Academic Journal
Patrick Deelen; Sipko van Dam; Johanna C. Herkert; Juha M. Karjalainen; Harm Brugge; Kristin M. Abbott; Cleo C. van Diemen; Paul A. van der Zwaag; Erica H. Gerkes; Evelien Zonneveld-Huijssoon; Jelkje J. Boer-Bergsma; Pytrik Folkertsma; Tessa Gillett; K. Joeri van der Velde; Roan Kanninga; Peter C. van den Akker; Sabrina Z. Jan; Edgar T. Hoorntje; Wouter P. te Rijdt; Yvonne J. Vos; Jan D. H. Jongbloed; Conny M. A. van Ravenswaaij-Arts; Richard Sinke; Birgit Sikkema-Raddatz; Wilhelmina S. Kerstjens-Frederikse; Morris A. Swertz; Lude Franke
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Academic Journal
Peer Arts; Annet Simons; Mofareh S. AlZahrani; Elanur Yilmaz; Eman AlIdrissi; Koen J. van Aerde; Njood Alenezi; Hamza A. AlGhamdi; Hadeel A. AlJubab; Abdulrahman A. Al-Hussaini; Fahad AlManjomi; Alaa B. Alsaad; Badr Alsaleem; Abdulrahman A. Andijani; Ali Asery; Walid Ballourah; Chantal P. Bleeker-Rovers; Marcel van Deuren; Michiel van der Flier; Erica H. Gerkes; Christian Gilissen; Murad K. Habazi; Jayne Y. Hehir-Kwa; Stefanie S. Henriet; Esther P. Hoppenreijs; Sarah Hortillosa; Chantal H. Kerkhofs; Riikka Keski-Filppula; Stefan H. Lelieveld; Khurram Lone; Marius A. MacKenzie; Arjen R. Mensenkamp; Jukka Moilanen; Marcel Nelen; Jaap ten Oever; Judith Potjewijd; Pieter van Paassen; Janneke H. M. Schuurs-Hoeijmakers; Anna Simon; Tomasz Stokowy; Maartje van de Vorst; Maaike Vreeburg; Anja Wagner; Gijs T. J. van Well; Dimitra Zafeiropoulou; Evelien Zonneveld-Huijssoon; Joris A. Veltman; Wendy A. G. van Zelst-Stams; Eissa A. Faqeih; Frank L. van de Veerdonk; Mihai G. Netea; Alexander Hoischen
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Academic Journal
Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, PY Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan PM; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire LS; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Study, Deciphering Developmental Disorders; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen LI; Deardorff, Matthew A
American Journal of Human Genetics, 101, 1, pp. 139-148
American Journal of Human Genetics, vol 101, iss 1
American Journal of Human Genetics, vol 101, iss 1
Academic Journal
Weeke, Lauren C. ; Brilstra, Eva ; Braun, Kees P. ; Zonneveld-Huijssoon, Evelien ; Salomons, Gajja S. ; Koeleman, Bobby P. ; van Gassen, Koen L. ; van Straaten, Henrica L. ; Craiu, Dana ; de Vries, Linda S.
In European Journal of Paediatric Neurology March 2017 21(2):396-403
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