未登录A RETROLECTIVE ANALYSIS ON THE SAFETY, EFFICACY AND IMMUNOGENICITY OF 203 GLIOBLASTOMA PATIENTS TREATED WITH PERSONALIZED THERAPEUTIC CANCER VACCINES (PTCV)
Latzer, Pauline; Zelba, Henning; Battke, Florian; Bartsch, Oliver; Reinhardt, Annekathrin; Pertuch, Eike; Shao, Borong; Rabsteyn, Armin; Okech, Thomas; Golf, Alexander; Kyzirakos-Feger, Christina; Kayser, Simone; Feldhahn, Magdalena; Wuensche, Julian; Hadaschik, Dirk; Goette, Dieter; Biskup, Saskia
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收藏A real-world observation of patients with glioblastoma treated with a personalized peptide vaccine
Latzer, Pauline; Zelba, Henning; Battke, Florian; Reinhardt, Annekathrin; Shao, Borong; Bartsch, Oliver; Rabsteyn, Armin; Harter, Johannes; Schulze, Martin; Okech, Thomas; Golf, Alexander; Kyzirakos-Feger, Christina; Kayser, Simone; Pieper, Natalia; Feldhahn, Magdalena; Wuensche, Julian; Seitz, Christian; Hadaschik, Dirk; Garbe, Claus; Hauser, Till-Karsten; la Fougere, Christian; Biskup, Dirk; Brooke, Dawn; Parker, David; Martens, Uwe M.; Illerhaus, Gerald; Blumenthal, Deborah T.; Merrell, Ryan; Lorenzo, Luisa Sanchez; Hidvegi, Mate; de Robles, Paula; Kebir, Sied; Li, William W.; Li, Vincent W.; Williams, Matthew; Miller, Alexandra M.; Kesari, Santosh; Castro, Michael; Desjardins, Annick; Ashley, David M.; Friedman, Henry S.; Wen, Patrick Y.; Neil, Elisabeth C.; Iwamoto, Fabio M.; Sipos, Bence; Geletneky, Karsten; Zender, Lars; Glas, Martin; Reardon, David A.; Biskup, Saskia
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收藏De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba; Safgren, Stephanie L.; Marelli, Cecilia; Chaussenot, Annabelle; Smedley, Damian; Cipriani, Valentina; de Sainte-Agathe, Jean-Madeleine; Ding, Can; Larrieu, Lise; Vestito, Letizia; Margot, Henri; Lesca, Gaetan; Ramond, Francis; Castrioto, Anna; Baux, David; Verheijen, Jan; Sansa, Emna; Giunti, Paola; Haetty, Aline; Bergougnoux, Anne; Pointaux, Morgane; Ardouin, Olivier; Van Goethem, Charles; Vincent, Marie-Claire; Hadjivassiliou, Marios; Cossee, Mireille; Rouaud, Tiphaine; Bartsch, Oliver; Freeman, William D.; Wierenga, Klaas J.; Klee, Eric W.; Vandrovcova, Jana; Houlden, Henry; Debant, Anne; Koenig, Michel
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收藏Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.
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收藏Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer
Zelba, Henning; Rabsteyn, Armin; Bartsch, Oliver; Kyzirakos, Christina; Kayser, Simone; Seibold, Marcel; Harter, Johannes; Latzer, Pauline; Hadaschik, Dirk; Battke, Florian; Golf, Alexander; Rettig, Matthew B.; Biskup, Saskia
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收藏Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2
Frommherz, Leonie; Komlosi, Katalin; Hewel, Charlotte; Kopp, Julia; Dewenter, Malin; Zimmer, Andreas; Bartsch, Oliver; Linke, Matthias; Technau-Hafsi, Kristin; Gerber, Susanne; Fischer, Judith; Has, Cristina
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收藏Adjuvant Treatment for Breast Cancer Patients Using Individualized Neoantigen Peptide Vaccination-A Retrospective Observation
Zelba, Henning; McQueeney, Alex; Rabsteyn, Armin; Bartsch, Oliver; Kyzirakos, Christina; Kayser, Simone; Harter, Johannes; Latzer, Pauline; Hadaschik, Dirk; Battke, Florian; Hartkopf, Andreas D.; Biskup, Saskia
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收藏The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Douzgou, Sofia; Dell'Oro, Janet; Fonseca, Cristina Rodriguez; Rei, Alessandra; Mullins, Jo; Jusiewicz, Isabelle; Huisman, Sylvia; Simpson, Brittany N.; Vyshka, Klea; Milani, Donatella; Bartsch, Oliver; Lacombe, Didier; Garcia-Minaur, Sixto; Hennekam, Raoul C. M.
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收藏A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4+ and CD8+ T Cells in COVID-19 Patients
Zelba, Henning; Worbs, David; Harter, Johannes; Pieper, Natalia; Kyzirakos-Feger, Christina; Kayser, Simone; Seibold, Marcel; Bartsch, Oliver; Kodding, Jiri; Biskup, Saskia
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收藏Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W. M.; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroeder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; van der Flier, Michiel; Martinez-Gallo, Monica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Baris, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjanen, Jaana; Seppanen, Mikko R. J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus; Grimbacher, Bodo
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收藏The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)
Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brunnich; Hamel, Christian; Delettre, Cecile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Ostergaard, Karen; Moller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria
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收藏Sema3a plays a role in the pathogenesis of CHARGE syndrome
Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa; Neuhofer, Christiane; Moeller, Janika; Wehner, Peter; van Ravenswaaij-Arts, Conny M. A.; Wong, Monica T. Y.; Schanze, Ina; Tzschach, Andreas; Bartsch, Oliver; Borchers, Annette; Pauli, Silke
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收藏The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brunnich; Hamel, Christian; Delettre, Cecile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Ostergaard, Karen; Moller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria
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收藏Key features and clinical variability of COG6-CDG
Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M.; Jaeken, Jaak; Kasapkara, Cigdem; Gokcay, Gulden; Haijes, Hanneke; Goyens, Philippe; Tokatli, Aysegul; Thiel, Christian; Bartsch, Oliver; Hecht, Jochen; Krawitz, Peter; Prinsen, Hubertus C. M. T.; Mildenberger, Eva; Matthijs, Gert; Kornak, Uwe
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收藏FGFR2 mutation in 46, XY sex reversal with craniosynostosis
Bagheri-Fam, Stefan; Ono, Makoto; Li, Li; Zhao, Liang; Ryan, Janelle; Lai, Raymond; Katsura, Yukako; Rossello, Fernando J.; Koopman, Peter; Scherer, Gerd; Bartsch, Oliver; Eswarakumar, Jacob V. P.; Harley, Vincent R.
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收藏Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesTWIST2的基本结构域中的反复突变会导致Ablepharon大口症和Barber-说综合征
Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T.; Wolfe, Lynne A.; Tifft, Cynthia J.; Zerfas, Patricia M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G.; Lee, Chyi-Chia R.; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J.; Chung, Hon-Yin Brian; Le Caignec, Cedric; Martins, Fabiana; Jacyk, Witold K.; Mazzanti, Laura; Brunner, Han G.; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V.; Boerkoel, Cornelius F.; Gahl, William A.; de Vries, Bert B. A.; van Haelst, Mieke M.; Zenker, Martin; Markello, Thomas C.
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收藏Redefining the MED13L syndrome重新定义MED13L综合征
Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Bjorn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, Joao; Soares, Gabriela; Lopes, Fatima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F.; Angus, Steven P.; Staropoli, John F.; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F.; Hubner, Christoph; Kaindl, Angela M.; Kalscheuer, Vera M.
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