학술논문
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'학술논문'
에서 검색결과 807건 | 목록
1~20
Academic Journal
Kalm, T.; Schob, C.; Völler, H.; Gardeitchik, T.; Gilissen, C.; Pfundt, R.P.; Klöckner, C.; Platzer, K.; Klabunde-Cherwon, A.; Ries, M.; Syrbe, S.; Beccaria, Francesca; Madia, F.; Scala, M.; Zara, F.; Hofstede, F.; Simon, M.E.; van Jaarsveld, R.H.; Oegema, R.; van Gassen, K.L.I.; Holwerda, S.J.B.; Barakat, T.S.; Bouman, A.; van Slegtenhorst, M.; Álvarez, S.; Fernández-Jaén, A.; Porta, J.; Accogli, A.; Mancardi, M.M.; Striano, P.; Iacomino, M.; Chae, J.H.; Jang, SeSong; Kim, S.Y.; Chitayat, D.; Mercimek-Andrews, S.; Depienne, C.; Kampmeier, A.; Kuechler, A.; Surowy, H.; Bertini, E.S.; Radio, F.C.; Mancini, C.; Pizzi, S.; Tartaglia, M.; Gauthier, L.; Genevieve, D.; Tharreau, M.; Azoulay, N.; Zaks-Hoffer, G.; Gilad, N.K.; Orenstein, N.; Bernard, G.; Thiffault, I.; Denecke, J.; Herget, T.; Kortüm, F.; Kubisch, C.; Bähring, R.; Kindler, S.
Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221
American Journal of Human Genetics, 111, 6, pp. 1206-1221
Academic Journal
Willem Bosman; Gijs A. C. Franken; Javier de las Heras; Leire Madariaga; Tahsin Stefan Barakat; Rianne Oostenbrink; Marjon van Slegtenhorst; Ana Perdomo-Ramírez; Félix Claverie-Martín; Albertien M. van Eerde; Rosa Vargas-Poussou; Laurence Derain Dubourg; Irene González-Recio; Luis Alfonso Martínez-Cruz; Jeroen H. F. de Baaij; Joost G. J. Hoenderop
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Academic Journal
Jil D. Stegmann; Jeshurun C. Kalanithy; Gabriel C. Dworschak; Nina Ishorst; Enrico Mingardo; Filipa M. Lopes; Yee Mang Ho; Phillip Grote; Tobias T. Lindenberg; Öznur Yilmaz; Khadija Channab; Steve Seltzsam; Shirlee Shril; Friedhelm Hildebrandt; Felix Boschann; André Heinen; Angad Jolly; Katherine Myers; Kim McBride; Mir Reza Bekheirnia; Nasim Bekheirnia; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Annalaura Torella; TUDP consortium; Michele Pinelli; Valeria Capra; Andrea Accogli; Silvia Maitz; Alice Spano; Rory J. Olson; Eric W. Klee; Brendan C. Lanpher; Se Song Jang; Jong-Hee Chae; Philipp Steinbauer; Dietmar Rieder; Andreas R. Janecke; Julia Vodopiutz; Ida Vogel; Jenny Blechingberg; Jennifer L. Cohen; Kacie Riley; Victoria Klee; Laurence E. Walsh; Matthias Begemann; Miriam Elbracht; Thomas Eggermann; Arzu Stoppe; Kyra Stuurman; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Maureen S. Mulhern; Tristan T. Sands; Cheryl Cytrynbaum; Rosanna Weksberg; Federica Isidori; Tommaso Pippucci; Giulia Severi; Francesca Montanari; Michael C. Kruer; Somayeh Bakhtiari; Hossein Darvish; Heiko Reutter; Gregor Hagelueken; Matthias Geyer; Adrian S. Woolf; Jennifer E. Posey; James R. Lupski; Benjamin Odermatt; Alina C. Hilger
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Academic Journal
Radio F. C.; Pang K.; Ciolfi A.; Levy M. A.; Hernandez-Garcia A.; Pedace L.; Pantaleoni F.; Liu Z.; de Boer E.; Jackson A.; Bruselles A.; McConkey H.; Stellacci E.; Lo Cicero S.; Motta M.; Carrozzo R.; Dentici M. L.; McWalter K.; Desai M.; Monaghan K. G.; Telegrafi A.; Philippe C.; Vitobello A.; Au M.; Grand K.; Sanchez-Lara P. A.; Baez J.; Lindstrom K.; Kulch P.; Sebastian J.; Madan-Khetarpal S.; Roadhouse C.; MacKenzie J. J.; Monteleone B.; Saunders C. J.; Jean Cuevas J. K.; Cross L.; Zhou D.; Hartley T.; Sawyer S. L.; Monteiro F. P.; Secches T. V.; Kok F.; Schultz-Rogers L. E.; Macke E. L.; Morava E.; Klee E. W.; Kemppainen J.; Iascone M.; Selicorni A.; Tenconi R.; Amor D. J.; Pais L.; Gallacher L.; Turnpenny P. D.; Stals K.; Ellard S.; Cabet S.; Lesca G.; Pascal J.; Steindl K.; Ravid S.; Weiss K.; Castle A. M. R.; Carter M. T.; Kalsner L.; de Vries B. B. A.; van Bon B. W.; Wevers M. R.; Pfundt R.; Stegmann A. P. A.; Kerr B.; Kingston H. M.; Chandler K. E.; Sheehan W.; Elias A. F.; Shinde D. N.; Towne M. C.; Robin N. H.; Goodloe D.; Vanderver A.; Sherbini O.; Bluske K.; Hagelstrom R. T.; Zanus C.; Faletra F.; Musante L.; Kurtz-Nelson E. C.; Earl R. K.; Anderlid B. -M.; Morin G.; van Slegtenhorst M.; Diderich K. E. M.; Brooks A. S.; Gribnau J.; Boers R. G.; Finestra T. R.; Carter L. B.; Rauch A.; Gasparini P.; Boycott K. M.; Barakat T. S.; Graham J. M.; Faivre L.; Banka S.; Wang T.; Eichler E. E.; Priolo M.; Dallapiccola B.; Vissers L. E. L. M.; Sadikovic B.; Scott D. A.; Holder J. L.; Tartaglia M.
American Journal of Human Genetics, 108, 3, pp. 502-516
SPEN study group 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.015
SPEN study group 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.015
Academic Journal
Dong Li; Qin Wang; Allan Bayat; Mark R. Battig; Yijing Zhou; Daniëlle G.M. Bosch; Gijs van Haaften; Leslie Granger; Andrea K. Petersen; Luis A. Pérez-Jurado; Gemma Aznar-Laín; Anushree Aneja; Miroslava Hancarova; Sarka Bendova; Martin Schwarz; Radka Kremlikova Pourova; Zdenek Sedlacek; Beth A. Keena; Michael E. March; Cuiping Hou; Nora O’Connor; Elizabeth J. Bhoj; Margaret H. Harr; Gabrielle Lemire; Kym M. Boycott; Meghan Towne; Megan Li; Mark Tarnopolsky; Lauren Brady; Michael J. Parker; Hanna Faghfoury; Lea Kristin Parsley; Emanuele Agolini; Maria Lisa Dentici; Antonio Novelli; Meredith Wright; Rachel Palmquist; Khanh Lai; Marcello Scala; Pasquale Striano; Michele Iacomino; Federico Zara; Annina Cooper; Timothy J. Maarup; Melissa Byler; Robert Roger Lebel; Tugce B. Balci; Raymond Louie; Michael Lyons; Jessica Douglas; Catherine Nowak; Alexandra Afenjar; Juliane Hoyer; Boris Keren; Saskia M. Maas; Mahdi M. Motazacker; Julian A. Martinez-Agosto; Ahna M. Rabani; Elizabeth M. McCormick; Marni J. Falk; Sarah M. Ruggiero; Ingo Helbig; Rikke S. Møller; Lino Tessarollo; Francesco Tomassoni Ardori; Mary Ellen Palko; Tzung-Chien Hsieh; Peter M. Krawitz; Mythily Ganapathi; Bruce D. Gelb; Vaidehi Jobanputra; Ashley Wilson; John Greally; Sébastien Jacquemont; Khadijé Jizi; Ange-Line Bruel; Chloé Quelin; Vinod K. Misra; Erika Chick; Corrado Romano; Donatella Greco; Alessia Arena; Manuela Morleo; Vincenzo Nigro; Rie Seyama; Yuri Uchiyama; Naomichi Matsumoto; Ryoji Taira; Katsuya Tashiro; Yasunari Sakai; Gökhan Yigit; Bernd Wollnik; Michael Wagner; Barbara Kutsche; Anna C.E. Hurst; Michelle L. Thompson; Ryan Schmidt; Linda Randolph; Rebecca C. Spillmann; Vandana Shashi; Edward J. Higginbotham; Dawn Cordeiro; Amanda Carnevale; Gregory Costain; Tayyaba Khan; Benoît Funalot; Frederic Tran Mau-Them; Luis Fernandez Garcia Moya; Sixto García-Miñaúr; Matthew Osmond; Lauren Chad; Nada Quercia; Diana Carrasco; Chumei Li; Amarilis Sanchez-Valle; Meghan Kelley; Mathilde Nizon; Brynjar O. Jensson; Patrick Sulem; Kari Stefansson; Svetlana Gorokhova; Tiffany Busa; Marlène Rio; Hamza Hadj Habdallah; Marion Lesieur-Sebellin; Jeanne Amiel; Véronique Pingault; Sandra Mercier; Marie Vincent; Christophe Philippe; Clemence Fatus-Fauconnier; Kathryn Friend; Rebecca K. Halligan; Sunita Biswas; Jane Rosser; Cheryl Shoubridge; Mark Corbett; Christopher Barnett; Jozef Gecz; Kathleen Leppig; Anne Slavotinek; Carlo Marcelis; Rolph Pfundt; Bert B.A. de Vries; Marjon A. van Slegtenhorst; Alice S. Brooks; Benjamin Cogne; Thomas Rambaud; Zeynep Tümer; Elaine H. Zackai; Naiara Akizu; Yuanquan Song; Hakon Hakonarson
The Journal of Clinical Investigation, Vol 134, Iss 1 (2024)
Academic Journal
Claudine W.B. Ruijmbeek; Filomena Housley; Hafiza Idrees; Michael P. Housley; Jenny Pestel; Leonie Keller; Jason K.H. Lai; Herma C. van der Linde; Rob Willemsen; Janett Piesker; Zuhair N. Al-Hassnan; Abdulrahman Almesned; Michiel Dalinghaus; Lisa M. van den Bersselaar; Marjon A. van Slegtenhorst; Federico Tessadori; Jeroen Bakkers; Tjakko J. van Ham; Didier Y.R. Stainier; Judith M.A. Verhagen; Sven Reischauer
JCI Insight, Vol 8, Iss 17 (2023)
Academic Journal
Nabais Sá MJ; Venselaar H; Wiel L; Trimouille A; Lasseaux E; Naudion S; Lacombe D; Piton A; Vincent-Delorme C; Zweier C; Reis A; Trollmann R; Ruiz A; Gabau E; Vetro A; Guerrini R; Bakhtiari S; Kruer MC; Amor DJ; Cooper MS; Bijlsma EK; Barakat TS; van Dooren MF; van Slegtenhorst M; Pfundt R; Gilissen C; Willemsen MA; de Vries BBA; de Brouwer APM; Koolen DA
GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Genetics in Medicine, 22, 4, pp. 797-802
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Genetics in Medicine, 22, 4, pp. 797-802
Academic Journal
Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
Frontiers in Neuroscience, Vol 17 (2023)
Academic Journal
Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
Frontiers in Neuroscience, Vol 17 (2023)
Academic Journal
Vandervore L. V.; Schot R.; Milanese C.; Smits D. J.; Kasteleijn E.; Fry A. E.; Pilz D. T.; Brock S.; Borklu-Yucel E.; Post M.; Bahi-Buisson N.; Sanchez-Soler M. J.; van Slegtenhorst M.; Keren B.; Afenjar A.; Coury S. A.; Tan W. -H.; Oegema R.; de Vries L. S.; Fawcett K. A.; Nikkels P. G. J.; Bertoli-Avella A.; Al Hashem A.; Alwabel A. A.; Tlili-Graiess K.; Efthymiou S.; Zafar F.; Rana N.; Bibi F.; Houlden H.; Maroofian R.; Person R. E.; Crunk A.; Savatt J. M.; Turner L.; Doosti M.; Karimiani E. G.; Saadi N. W.; Akhondian J.; Lequin M. H.; Kayserili H.; van der Spek P. J.; Jansen A. C.; Kros J. M.; Verdijk R. M.; Milosevic N. J.; Fornerod M.; Mastroberardino P. G.; Mancini G. M. S.
The American Journal of Human Genetics. 105:1126-1147
Academic Journal
Magini P.; Smits D. J.; Vandervore L.; Schot R.; Columbaro M.; Kasteleijn E.; van der Ent M.; PALOMBO, FRANCESCO; Lequin M. H.; Dremmen M.; de Wit M. C. Y.; Severino M.; Divizia M. T.; Striano P.; Ordonez-Herrera N.; Alhashem A.; Al Fares A.; Al Ghamdi M.; Rolfs A.; Bauer P.; Demmers J.; Verheijen F. W.; Wilke M.; van Slegtenhorst M.; van der Spek P. J.; Seri M.; Jansen A. C.; Stottmann R. W.; Hufnagel R. B.; Hopkin R. J.; Aljeaid D.; Wiszniewski W.; Gawlinski P.; Laure-Kamionowska M.; Alkuraya F. S.; Akleh H.; Stanley V.; Musaev D.; Gleeson J. G.; Zaki M. S.; Brunetti-Pierri N.; Cappuccio G.; Davidov B.; Basel-Salmon L.; Bazak L.; Shahar N. R.; Bertoli-Avella A.; Mirzaa G. M.; Dobyns W. B.; Pippucci T.; Fornerod M.; Mancini G. M. S.
The American Journal of Human Genetics. 105:689-705
Academic Journal
Janne J. M. van Schie; Atiq Faramarz; Jesper A. Balk; Grant S. Stewart; Erika Cantelli; Anneke B. Oostra; Martin A. Rooimans; Joanna L. Parish; Cynthia de Almeida Estéves; Katja Dumic; Ingeborg Barisic; Karin E. M. Diderich; Marjon A. van Slegtenhorst; Mohammad Mahtab; Francesca M. Pisani; Hein te Riele; Najim Ameziane; Rob M. F. Wolthuis; Job de Lange
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Academic Journal
Tadros, Rafik; Francis, Catherine; Xu, Xiao; Vermeer, Alexa M. C.; Harper, Andrew R.; Huurman, Roy; Kelu Bisabu, Ken; Walsh, Roddy; Hoorntje, Edgar T.; te Rijdt, Wouter P.; Buchan, Rachel J.; van Velzen, Hannah G.; van Slegtenhorst, Marjon A.; Vermeulen, Jentien M.; Offerhaus, Joost Allard; Bai, Wenjia; de Marvao, Antonio
Nature Genetics. February, 2021, Vol. 53 Issue 2, p128, 7 p.
Academic Journal
Fatalska, A.; Hodgson, G.; Freund, S.; Maslen, S.; Morgan, T.; Thorkelsson, S.; van Slegtenhorst, M.; Lorenz, S.; https://orcid.org/0000-0002-9639-2381; Andreeva, A.; Kaat, L.; Bertolotti, A.
Mol Cell
Molecular Cell
Molecular Cell
Academic Journal
Nikki van der Velde; Roy Huurman; H. Carlijne Hassing; Ricardo P. J. Budde; Marjon A. van Slegtenhorst; Judith M. A. Verhagen; Arend F. L. Schinkel; Michelle Michels; Alexander Hirsch
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Academic Journal
Holger Hengel; Célia Bosso-Lefèvre; George Grady; Emmanuelle Szenker-Ravi; Hankun Li; Sarah Pierce; Élise Lebigot; Thong-Teck Tan; Michelle Y. Eio; Gunaseelan Narayanan; Kagistia Hana Utami; Monica Yau; Nader Handal; Werner Deigendesch; Reinhard Keimer; Hiyam M. Marzouqa; Meral Gunay-Aygun; Michael J. Muriello; Helene Verhelst; Sarah Weckhuysen; Sonal Mahida; Sakkubai Naidu; Terrence G. Thomas; Jiin Ying Lim; Ee Shien Tan; Damien Haye; Michèl A. A. P. Willemsen; Renske Oegema; Wendy G. Mitchell; Tyler Mark Pierson; Marisa V. Andrews; Marcia C. Willing; Lance H. Rodan; Tahsin Stefan Barakat; Marjon van Slegtenhorst; Ralitza H. Gavrilova; Diego Martinelli; Tal Gilboa; Abdullah M. Tamim; Mais O. Hashem; Moeenaldeen D. AlSayed; Maha M. Abdulrahim; Mohammed Al-Owain; Ali Awaji; Adel A. H. Mahmoud; Eissa A. Faqeih; Ali Al Asmari; Sulwan M. Algain; Lamyaa A. Jad; Hesham M. Aldhalaan; Ingo Helbig; David A. Koolen; Angelika Riess; Ingeborg Kraegeloh-Mann; Peter Bauer; Suleyman Gulsuner; Hannah Stamberger; Alvin Yu Jin Ng; Sha Tang; Sumanty Tohari; Boris Keren; Laura E. Schultz-Rogers; Eric W. Klee; Sabina Barresi; Marco Tartaglia; Hagar Mor-Shaked; Sateesh Maddirevula; Amber Begtrup; Aida Telegrafi; Rolph Pfundt; Rebecca Schüle; Brian Ciruna; Carine Bonnard; Mahmoud A. Pouladi; James C. Stewart; Adam Claridge-Chang; Dirk J. Lefeber; Fowzan S. Alkuraya; Ajay S. Mathuru; Byrappa Venkatesh; Joseph J. Barycki; Melanie A. Simpson; Saumya S. Jamuar; Ludger Schöls; Bruno Reversade
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Academic Journal
Huurman, R.; Schinkel, A. F. L; van der Velde, N.; Bowen, D. J.; Menting, M. E.; van den Bosch, A. E.; van Slegtenhorst, M.; Hirsch, A.; Michels, M.
Netherlands Heart Journal. :1-7
Academic Journal
Schoonvelde, S. A. C.; Zwetsloot, P. P.; Hirsch, A.; Schinkel, A. F. L.; Knackstedt, C.; Germans, T.; Van Slegtenhorst, M. A.; Verhagen, J. M. A.; De Boer, R. A.; Michels, M.
Academic Journal
van Slegtenhorst, Marjon; de Hoogt, Ronald; Hermans, Caroline; Nellist, Mark; Janssen, Bart; Verhoef, Senno; Lindhout, Dick; Van den Ouweland, Ans; Halley, Dicky; Young, Janet; Burley, Mariwyn; Jeremiah, Steve; Woodward, Karen; Nahmias, Joseph; Fox, Margaret; Ekong, Rosemary; Osborne, John; Wolfe, Jonathan; Povey, Sue; Snell, Russell G.; Cheadle, Jeremy P.; Jones, Alistair C.; Tachataki, Maria; Ravine, Dave; Sampson, Julian R.; Reeve, Mary Pat; Richardson, Paul; Wilmer, Frierderike; Munro, Cheryl; Hawkins, Trevor L.; Sepp, Tiina; Ward, Susannah; Green, Andrew J.; Kwiatkowska, Jolanta; Short, M. Priscilla; Haines, Jonathan H.; Jozwiak, Sergiusz; Kwiatkowski, David J.
Science, 1997 Aug 01. 277(5327), 805-808.
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