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Academic Journal
Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; McGinnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A.R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W.E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Akkaya, Federica; Babka, Christine; Bannert, Lisa; Bärsch-Michelmann, Anja; Böhm, Leonie; Brinkmann, Folke; Bullinger, Monika; Cario, Holger; de Greck, Moritz; Debatin, Klaus-Michael; Dillmann-Jehn, Katrin; Eymann, Jutta; Frisch, Julia; Glode, Anja; Gödecke, Vega; Grasemann, Corinna; Grauer, Eva; Haas, Astrid; Haisch, Lea; Isabell; Heinrich; Held, Melissa; Hennermann, Julia; Herpertz, Stephan; Herrmann-Werner, Anne; Hett, Julian; Heuschmann, Peter; Hilbig, Bettina; Holthöfer, Laura; Imhof, Christiane; Junne, Florian; Kassubek, Jan; Koschitzki, Kevin-Thomas; Krassort, Heike; Kropff, Birgit; Kuhn, Julia; Latzko, Philipp; Loew, Thomas; Ludolph, Albert C.; Meyer, Torsten; Meyer dos Santos, Isabell; Mohnike, Klaus; Monninger, Martina; Mücke, Martin; Müller, Susanne; Musacchio, Thomas; Nießen, Margret; Nöhre, Mariel; Ott, Stephan; Petermann-Meyer, Andrea; Pfeifer-Duck, Christina; Piduhn, Lea-Sophie; Rampp, Carina; Rieß, Olaf; Schaubert, Kristina; Schmidt, Annika; Schneider, Simone; Schoels, Ludger; Schwalba, Martina; Selig, Udo; Sroka, Alexandra; Steinbüchel, Toni; Stösser, Sebastian; Suchant, Steffi; Ungethüm, Kathrin; Vogel, Matthias; Volk, Daniela; Vollmuth, Christoph; Volnov, Solange; Wagner, Thomas O.F.; Walter, Sabrina; Warrings, Bodo; Zajt, Kamil; Zenker, Karola; Zhang, David; Zipfel, Stephan; Hebestreit, Helge; Lapstich, Anne-Marie; Brandstetter, Lilly; Krauth, Christian; Deckert, Jürgen; Haas, Kirsten; Pfister, Lisa; Witt, Stefanie; Schippers, Christopher; Dieris-Hirche, Jan; Maisch, Tim; Tüscher, Oliver; Bârlescu, Lavinia Aurelia; Berger, Alexandra; Berneburg, Mark; Britz, Vanessa; Deibele, Anna; Graeßner, Holm; Gündel, Harald; Heuft, Gereon; Lücke, Thomas; Mundlos, Christine; Quitmann, Julia Hannah; Rutsch, Frank; Schubert, Katharina; Schulz, Jörg B.; Schweiger, Susann; Zeidler, Cornelia; Zeltner, Lena Margarete; de Zwaan, Martina; Bârlescu, Lavinia; Quitmann, Julia; Schulz, Jörg Bernhard; Zeltner, Lena
In eClinicalMedicine November 2023 65
Academic Journal
Holthöfer, Laura; Diederich, Stefan; Haug, Verena; Lehmann, Lioba; Hewel, Charlotte; Paul, Norbert W.; Schweiger, Susann; Gerber, Susanne; Linke, Matthias
Academic Journal
Hebestreit, Helge; Zeidler, Cornelia; Schippers, Christopher; de Zwaan, Martina; Deckert, Jürgen; Heuschmann, Peter; Krauth, Christian; Bullinger, Monika; Berger, Alexandra; Berneburg, Mark; Brandstetter, Lilly; Deibele, Anna; Dieris-Hirche, Jan; Graessner, Holm; Gündel, Harald; Herpertz, Stephan; Heuft, Gereon; Lapstich, Anne-Marie; Lücke, Thomas; Maisch, Tim; Mundlos, Christine; Petermann-Meyer, Andrea; Müller, Susanne; Ott, Stephan; Pfister, Lisa; Quitmann, Julia; Romanos, Marcel; Rutsch, Frank; Schaubert, Kristina; Schubert, Katharina; Schulz, Jörg B.; Schweiger, Susann; Tüscher, Oliver; Ungethüm, Kathrin; Wagner, Thomas O. F.; Haas, Kirsten; Akkaya, Federica; Babka, Christine; Bârlescu, Lavinia; Bärsch-Michelmann, Anja; Bergbreiter, Astrid; Blömeke, Janika; Böhm, Leonie; Böttger, Benita; Braun, Birgit; Brinkmann, Folke; Britz, Vanessa; Cario, Holger; Celiker, Melisa; de Greck, Moritz; Debatin, Klaus-Michael; Dillmann-Jehn, Katrin; Ertl, Max; Ettinger, Monika; Eymann, Jutta; Frommer, Jörg; Gabrian, Martina; Glode, Anja; Gödecke, Vega; Grasemann, Corinna; Grauer, Eva; Greger, Helmut; Haas, Astrid; Haase, Martina; Haisch, Lea; Heinrich, Isabel; Held, Melissa; Hennermann, Julia; Herrmann-Werner, Anne; Hett, Julian; Hilbig, Bettina; Holthöfer, Laura; Imhof, Christiane; Jacob, Titus; Junne, Florian; Karl, Stefanie; Kassubek, Jan; Kick, Lisa; Koschitzki, Kevin-Thomas; Krassort, Heike; Kratz, Christian; Kristensen, Kaja; Kropff, Birgit; Kuhn, Julia; Latzko, Philipp; Loew, Thomas; Lorenz, Delia; Ludolph, Albert C.; dos Santos, Isabell Meyer; Meyer, Torsten; Mohnike, Klaus; Monninger, Martina; Musacchio, Thomas; Nanciu, Amalia Nicole; Niessen, Margret; Nöhre, Mariell; Papagianni, Aikaterini; Pfeifer-Duck, Christina; Piduhn, Lea-Sophie; Rampp, Carina; Richter, Antonia; Riess, Olaf; Schmidt, Annika; Schneider, Simone; Schoels, Ludger; Schwalba, Martina; Selig, Udo; Spangenberger, Astrid; Sroka, Alexandra; Steinbüchel, Toni; Stösser, Sebastian; Suchant, Steffi; Vogel, Matthias; Volk, Daniela; Vollmuth, Christoph; Volnov, Solange; Walter, Sabrina; Warrings, Bodo; Weiler, Christine; Witt, Stefanie; Zajt, Kamil Kajetan; Zeltner, Lena; Zenker, Karola; Zhang, Kailun David; Zipfel, Stephan
Orphanet Journal of Rare Diseases. February 14, 2022, Vol. 17 Issue 1
Electronic Resource
Bosch, Elisabeth; https://orcid.org/0000-0002-4952-2016; Popp, Bernt; https://orcid.org/0000-0002-3679-1081; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J; https://orcid.org/0000-0002-1174-2806; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogné, Benjamin; https://orcid.org/0000-0002-5503-6292; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399; Platzer, Konrad; Carter, Lauren B; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; https://orcid.org/0000-0001-6763-1542; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A; et al; Zweier, Markus; https://orcid.org/0000-0001-8290-0413
Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogné, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A; et al; Zweier, Markus (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genetics in Medicine, 25(11):100950.
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[AR] Holthöfer, Laura
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