학술논문
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'학술논문'
에서 검색결과 205건 | 목록
1~20
Academic Journal
Riess, Angelika; Roggia, Cristiana; Selting, Antje Schulze; Lysenkov, Vladislav; Ossowski, Stephan; Casadei, Nicolas; Riess, Olaf; Singh, Yogesh
Functional & Integrative Genomics. 25(1)
Academic Journal
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Solve-RD consortium; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1144-1149
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Andreas Dufke; Markus Hoopmann; Stephan Waldmüller; Natalia Carmen Prodan; Stefanie Beck‐Wödl; Ute Grasshoff; Tilman Heinrich; Angelika Riess; Martin Kehrer; Ruth J. Falb; Alexandra Liebmann; Cristiana Roggia; Miriam Stampfer; Malou Schadeck; Amelie J. Müller; Mona Grimmel; Petra Stöbe; Darja Gauck; Rebecca Buchert‐Lo; Sarah Baumann; Karin Schäferhoff; Miriam Bertrand; Benita Menden; Marc Sturm; Leon Schütz; Olaf Riess; Stephan Ossowski; Tobias B. Haack; Karl Oliver Kagan
Prenatal Diagnosis. 42:901-910
Academic Journal
Jet van der Spek; Joery den Hoed; Lot Snijders Blok; Alexander J.M. Dingemans; Dick Schijven; Christoffer Nellaker; Hanka Venselaar; Galuh D.N. Astuti; Tahsin Stefan Barakat; E. Martina Bebin; Stefanie Beck-Wödl; Gea Beunders; Natasha J. Brown; Theresa Brunet; Han G. Brunner; Philippe M. Campeau; Goran Čuturilo; Christian Gilissen; Tobias B. Haack; Irina Hüning; Ralf A. Husain; Benjamin Kamien; Sze Chern Lim; Luca Lovrecic; Janine Magg; Ales Maver; Valancy Miranda; Danielle C. Monteil; Charlotte W. Ockeloen; Lynn S. Pais; Vasilica Plaiasu; Laura Raiti; Christopher Richmond; Angelika Rieß; Eva M.C. Schwaibold; Marleen E.H. Simon; Stephanie Spranger; Tiong Yang Tan; Michelle L. Thompson; Bert B.A. de Vries; Ella J. Wilkins; Marjolein H. Willemsen; Clyde Francks; Lisenka E.L.M. Vissers; Simon E. Fisher; Tjitske Kleefstra
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine
Academic Journal
Yuyang Chen; Ruebena Dawes; Hyung Chul Kim; Sarah L Stenton; Susan Walker; Alicia Ljungdahl; Jenny Lord; Vijay S Ganesh; Jialan Ma; Alexandra C Martin-Geary; Gabrielle Lemire; Elston N D’Souza; Shan Dong; Jamie M Ellingford; David R Adams; Kirsten Allan; Madhura Bakshi; Erin E Baldwin; Seth I Berger; Jonathan A Bernstein; Natasha J Brown; Lindsay C Burrage; Kimberly Chapman; Alison G Compton; Chloe A Cunningham; Precilla D’Souza; Emmanuèle C Délot; Kerith-Rae Dias; Ellen R Elias; Carey-Anne Evans; Lisa Ewans; Kimberly Ezell; Jamie L Fraser; Lyndon Gallacher; Casie A Genetti; Christina L Grant; Tobias Haack; Alma Kuechler; Seema R Lalani; Elsa Leitão; Anna Le Fevre; Richard J Leventer; Jan E Liebelt; Paul J Lockhart; Alan S Ma; Ellen F Macnamara; Taylor M Maurer; Hector R Mendez; Stephen B Montgomery; Marie-Cécile Nassogne; Serena Neumann; Melanie O’Leary; Elizabeth E Palmer; John Phillips; Georgia Pitsava; Ryan Pysar; Heidi L Rehm; Chloe M Reuter; Nicole Revencu; Angelika Riess; Rocio Rius; Lance Rodan; Tony Roscioli; Jill A Rosenfeld; Rani Sachdev; Cas Simons; Sanjay M Sisodiya; Penny Snell; Laura St Clair; Zornitza Stark; Tiong Yang Tan; Natalie B Tan; Suzanna EL Temple; David R Thorburn; Cynthia J Tifft; Eloise Uebergang; Grace E VanNoy; Eric Vilain; David H Viskochil; Laura Wedd; Matthew T Wheeler; Susan M White; Monica Wojcik; Lynne A Wolfe; Zoe Wolfenson; Changrui Xiao; David Zocche; John L Rubenstein; Eirene Markenscoff-Papadimitriou; Sebastian M Fica; Diana Baralle; Christel Depienne; Daniel G MacArthur; Joanna MM Howson; Stephan J Sanders; Anne O’Donnell-Luria; Nicola Whiffin
medRxiv
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B, Nassogne, M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N,Riess , A, Rius, R, Rodan, L, Roscioli, T, Rosenfeld, J A, Sachdev, R, Simons, C, Sisodiya, S M, Snell, P, Clair, L S, Stark, Z, Tan, T Y, Tan, N B, Temple, S E, Thorburn, D R, Tifft, C J, Uebergang, E, VanNoy, G E, Vilain, E, Viskochil, D H, Wedd, L, Wheeler, M T, White, S M, Wojcik, M, Wolfe, L A, Wolfenson, Z, Xiao, C, Zocche, D, Rubenstein, J L, Markenscoff-Papadimitriou, E, Fica, S M, Baralle, D, Depienne, C, MacArthur, D G, Howson, J M, Sanders, S J, O'Donnell-Luria, A & Whiffin, N 2024, 'De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.', medRxiv. https://doi.org/10.1101/2024.04.07.24305438
Chen, Y, Dawes, R, Kim, H C, Stenton, S L, Walker, S, Ljungdahl, A, Lord, J, Ganesh, V S, Ma, J, Martin-Geary, A C, Lemire, G, D'Souza, E N, Dong, S, Ellingford, J M, Adams, D R, Allan, K, Bakshi, M, Baldwin, E E, Berger, S I, Bernstein, J A, Brown, N J, Burrage, L C, Chapman, K, Compton, A G, Cunningham, C A, D'Souza, P, Délot, E C, Dias, K-R, Elias, E R, Evans, C-A, Ewans, L, Ezell, K, Fraser, J L, Gallacher, L, Genetti, C A, Grant, C L, Haack, T, Kuechler, A, Lalani, S R, Leitão, E, Fevre, A L, Leventer, R J, Liebelt, J E, Lockhart, P J, Ma, A S, Macnamara, E F, Maurer, T M, Mendez, H R, Montgomery, S B, Nassogne, M-C, Neumann, S, O'Leary, M, Palmer, E E, Phillips, J, Pitsava, G, Pysar, R, Rehm, H L, Reuter, C M, Revencu, N,
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1191-1191
Academic Journal
Juliane Sachsenweger; Rebecca Jansche; Tatjana Merk; Benedikt Heitmeir; Miriam Deniz; Ulrike Faust; Cristiana Roggia; Andreas Tzschach; Christopher Schroeder; Angelika Riess; Helmut Pospiech; Hellevi Peltoketo; Katri Pylkäs; Robert Winqvist; Lisa Wiesmüller
Cell Death and Disease, Vol 14, Iss 5, Pp 1-15 (2023)
Academic Journal
Kroidl, Inge; Winter, Simon; Rubio-Acero, Raquel; Bakuli, Abhishek; Geldmacher, Christof; Eser, Tabea M.; Déak, Flora; Horn, Sacha; Zielke, Anna; Ahmed, Mohamed I. M.; Diepers, Paulina; Guggenbühl, Jessica; Frese, Jonathan; Bruger, Jan; Puchinger, Kerstin; Reich, Jakob; Falk, Philine; Markgraf, Alisa; Fensterseifer, Heike; Paunovic, Ivana; Thomschke, Angelika; Pritsch, Michael; Riess, Friedrich; Saathoff, Elmar; Hoelscher, Michael; Olbrich, Laura; Castelletti, Noemi; Wieser, Andreas
Virology Journal. 20(1)
Academic Journal
Stefanie Beck‐Wödl; Christiane Kehrer; Klaus Harzer; Tobias B. Haack; Friederike Bürger; Dorothea Haas; Angelika Rieß; Samuel Groeschel; Ingeborg Krägeloh‐Mann; Judith Böhringer
JIMD Rep
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
Academic Journal
Tawfiq Froukh; Omar Nafie; Sana' A. S. Al Hait; Lucia Laugwitz; Julia Sommerfeld; Marc Sturm; Aya Baraghiti; Tala Issa; Anis Al‐Nazer; Philipp A. Koch; Johannes Hanselmann; Beate Kootz; Peter Bauer; Wael Al‐Ameri; Rami Abou Jamra; Ayman J. Alfrook; Moath Hamadallah; Linda Sofan; Angelika Riess; Tobias B. Haack; Olaf Riess; Rebecca Buchert
Clinical Genetics. 97:621-627
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 1 June 2023 110(6):963-978
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Academic Journal
Yuri A. Zarate; Katherine A. Bosanko; Mary Ann Thomas; David T. Miller; Kristina Cusmano‐Ozog; Antonio Martinez‐Monseny; Cynthia J. Curry; John M. Graham; Lea Velsher; Mir Reza Bekheirnia; Veronica Seidel; Demitrios Dedousis; Anna L. Mitchell; Amy M. DiMarino; Angelika Riess; Meena Balasubramanian; Jennifer L. Fish; Aisling R. Caffrey; Nicole Fleischer; Tyler Mark Pierson; Ronald V. Lacro
CLINICAL GENETICS
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Academic Journal
Altmüller, Janine; Angelov, Angel; Aschenbrenner, Anna C.; Bals, Robert; Bartholomäus, Alexander; Becker, Anke; Becker, Matthias; Bezdan, Daniela; Bitzer, Michael; Blumert, Conny; Bonifacio, Ezio; Bork, Peer; Boyke, Bunk; Blum, Helmut; Casadei, Nicolas; Clavel, Thomas; Colome-Tatche, Maria; Cornberg, Markus; De La Rosa Velázquez, Inti Alberto; Diefenbach, Andreas; Dilthey, Alexander; Fischer, Nicole; Förstner, Konrad; Franzenburg, Sören; Frick, Julia-Stefanie; Gabernet, Gisela; Gagneur, Julien; Ganzenmueller, Tina; Gauder, Marie; Geißert, Janina; Goesmann, Alexander; Göpel, Siri; Grundhoff, Adam; Grundmann, Hajo; Hain, Torsten; Hanses, Frank; Hehr, Ute; Heimbach, André; Hoeper, Marius; Horn, Friedemann; Hübschmann, Daniel; Hummel, Michael; Iftner, Thomas; Iftner, Angelika; Illig, Thomas; Janssen, Stefan; Kalinowski, Jörn; Kallies, René; Kehr, Birte; Keller, Andreas; Keppler, Oliver T.; Kim-Hellmuth, Sarah; Klein, Christoph; Knop, Michael; Kohlbacher, Oliver; Köhrer, Karl; Korbel, Jan; Kremsner, Peter G.; Kühnert, Denise; Kurth, Ingo; Landthaler, Markus; Li, Yang; Ludwig, Kerstin U.; Makarewicz, Oliwia; Marini, Federico; Marz, Manja; McHardy, Alice C.; Mertes, Christian; Münchhoff, Maximilian; Nahnsen, Sven; Nöthen, Markus; Ntoumi, Francine; Nürnberg, Peter; Ossowski, Stephan; Overmann, Jörg; Peter, Silke; Pfeffer, Klaus; Pink, Isabell; Poetsch, Anna R.; Protzer, Ulrike; Pühler, Alfred; Rajewsky, Nikolaus; Ralser, Markus; Reiche, Kristin; Rieß, Olaf; Ripke, Stephan; Nunes da Rocha, Ulisses; Rosenstiel, Philip; Saliba, Antoine-Emmanuel; Sander, Leif Erik; Sawitzki, Birgit; Scheithauer, Simone; Schiffer, Philipp; Schmid-Burgk, Jonathan; Schneider, Wulf; Schulte, Eva-Christina; Schultze, Joachim L.; Sczyrba, Alexander; Sharaf, Mariam L.; Singh, Yogesh; Sonnabend, Michael; Stegle, Oliver; Stoye, Jens; Theis, Fabian; Ulas, Thomas; Vehreschild, Janne; Velavan, Thirumalaisamy P.; Vogel, Jörg; Volland, Sonja; von Kleist, Max; Walker, Andreas; Walter, Jörn; Wieczorek, Dagmar; Winkler, Sylke; Ziebuhr, John; Krämer, Benjamin ; Knoll, Rainer ; Bonaguro, Lorenzo ; ToVinh, Michael ; Raabe, Jan ; Astaburuaga-García, Rosario ; Schulte-Schrepping, Jonas ; Kaiser, Kim Melanie ; Rieke, Gereon J. ; Bischoff, Jenny ; Monin, Malte B. ; Hoffmeister, Christoph ; Schlabe, Stefan ; De Domenico, Elena ; Reusch, Nico ; Händler, Kristian ; Reynolds, Gary ; Blüthgen, Nils ; Hack, Gudrun ; Finnemann, Claudia ; Nischalke, Hans D. ; Strassburg, Christian P. ; Stephenson, Emily ; Su, Yapeng ; Gardner, Louis ; Yuan, Dan ; Chen, Daniel ; Goldman, Jason ; Rosenstiel, Philipp ; Schmidt, Susanne V. ; Latz, Eicke ; Hrusovsky, Kevin ; Ball, Andrew J. ; Johnson, Joe M. ; Koenig, Paul-Albert ; Schmidt, Florian I. ; Haniffa, Muzlifah ; Heath, James R. ; Kümmerer, Beate M. ; Keitel, Verena ; Jensen, Björn ; Stubbemann, Paula ; Kurth, Florian ; Sander, Leif E. ; Nattermann, Jacob
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Academic Journal
Wisam Habhab; Ulrike Mau‐Holzmann; Sylke Singer; Angelika Rieß; Karl‐Oliver Kagan; Ines Gerbig; Karin Schäferhoff; Andreas Dufke; Martin Kehrer
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Academic Journal
Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah ; MacKay, Sara B. ; Schatz, Ulrich ; Fleger, Martin ; Kurringer, Andreas ; Balousha, Ghassan ; Ghanim, Zaid ; Alkuraya, Fowzan S. ; Alzaidan, Hamad ; Alsaif, Hessa S. ; Mitani, Tadahiro ; Bozdogan, Sevcan ; Pehlivan, Davut ; Lupski, James R. ; Gleeson, Joseph J. ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Y.V. ; Sherr, Elliott H. ; Parks, Kendall C. ; Argilli, Emanuela ; Begtrup, Amber ; Galehdari, Hamid ; Balousha, Osama ; Shariati, Gholamreza ; Mazaheri, Neda ; Malamiri, Reza A. ; Pagnamenta, Alistair T. ; Kingston, Helen ; Banka, Siddharth ; Jackson, Adam ; Osmond, Mathew ; Rieß, Angelika ; Haack, Tobias B. ; Nägele, Thomas ; Schuster, Stefanie ; Hauser, Stefan ; Admard, Jakob ; Casadei, Nicolas ; Velic, Ana ; Macek, Boris ; Ossowski, Stephan ; Houlden, Henry ; Maroofian, Reza ; Schöls, Ludger
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Academic Journal
Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy ; Lecoquierre, François ; Brasseur-Daudruy, Marie ; Petit, Florence ; Smol, Thomas ; Ziegler, Alban ; Bonneau, Dominique ; Colin, Estelle ; Mercier, Sandra ; Cogné, Benjamin ; Bézieau, Stéphane ; Edery, Patrick ; Lesca, Gaetan ; Chatron, Nicolas ; Sabatier, Isabelle ; Duban-Bedu, Bénédicte ; Colson, Cindy ; Piton, Amélie ; Durand, Benjamin ; Capri, Yline ; Perrin, Laurence ; Wiesener, Antje ; Zweier, Christiane ; Maroofian, Reza ; Carroll, Christopher J. ; Galehdari, Hamid ; Mazaheri, Neda ; Callewaert, Bert ; Giulianno, Fabienne ; Zaafrane-Khachnaoui, Khaoula ; Buchert-Lo, Rebecca ; Haack, Tobias ; Magg, Janine ; Rieß, Angelika ; Blandfort, Maria ; Waldmüller, Stephan ; Horber, Veronka ; Leonardi, Emanuela ; Polli, Roberta ; Turolla, Licia ; Murgia, Alessandra ; Frebourg, Thierry ; Lebre, Anne Sophie ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Guerrot, Anne-Marie
In European Journal of Medical Genetics October 2020 63(10)
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