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1دورية أكاديمية
المؤلفون: Bachmann, Nadine, Auber, Bernd, Das, Anibh, Distelmaier, Felix, Gabriel, Heinz, Himmelreich, Nastassja, Lemke, Johannes, Bergmann, CarstenAff1, Aff7, IDs00112023017471_cor8
المصدر: Monatsschrift Kinderheilkunde: Zeitschrift für Kinder- und Jugendmedizin. 172(7):587-594
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2دورية أكاديمية
المؤلفون: Dobner, Jochen, Nguyen, Thach, Pavez-Giani, Mario Gustavo, Cyganek, Lukas, Distelmaier, Felix, Krutmann, Jean, Prigione, Alessandro, Rossi, Andrea
المصدر: In Molecular Therapy - Methods & Clinical Development 13 June 2024 32(2)
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3دورية أكاديمية
المؤلفون: Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian
المصدر: In Molecular Genetics and Metabolism March 2024 141(3)
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4دورية أكاديمية
المؤلفون: Reijnders, Margot R.F., Seibt, Annette, Brugger, Melanie, Lamers, Ideke J.C., Ott, Torsten, Klaas, Oliver, Horváth, Judit, Rose, Ailsa M.S., Craghill, Isabel M., Brunet, Theresa, Graf, Elisabeth, Mayerhanser, Katharina, Hellebrekers, Debby, Pauck, David, Neuen-Jacob, Eva, Rodenburg, Richard J.T., Wieczorek, Dagmar, Klee, Dirk, Mayatepek, Ertan, Driessen, Gertjan, Bindermann, Robert, Averdunk, Luisa, Lohmeier, Klaus, Sinnema, Margje, Stegmann, Alexander P.A., Roepman, Ronald, Poulter, James A., Distelmaier, Felix
المصدر: In Genetics in Medicine July 2023 25(7)
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5دورية أكاديمية
المؤلفون: Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, Distelmaier, Felix
المصدر: In Genetics in Medicine July 2023 25(7)
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6دورية أكاديمية
المؤلفون: Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia
المصدر: In Genetics in Medicine June 2023 25(6)
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7دورية أكاديمية
المؤلفون: Wagner, Matias, Skorobogatko, Yuliya, Pode-Shakked, Ben, Powell, Cynthia, Alhaddad, Bader, Seibt, Annette, Barel, Ortal, Heimer, Gali, Hoffmann, Chen, Demmer, Laurie, Perilla-Young, Yezmin, Remke, Marc, Wieczorek, Dagmar, Navaratnarajah, Tharsini, Lichtner, Peter, Klee, Dirk, Shamseldin, Hanan, Al Mutairi, Fuad, Mayatepek, Ertan, Strom, Tim, Meitinger, Thomas, Alkuraya, Fowzan, Anikster, Yair, Distelmaier, Felix, Saltiel, Alan
المصدر: American Journal of Human Genetics. 106(2)
مصطلحات موضوعية: GARNL1, RalA signaling, TULIP1, West syndrome, epilepsy, muscular hypotonia, neurodevelopmental disorder, Alleles, Cell Movement, Cell Proliferation, Child, Preschool, Family, Feeding and Eating Disorders, Female, GTPase-Activating Proteins, Humans, Infant, Male, Muscle Hypotonia, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Phenotype, Spasms, Infantile
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/3j53q1dw
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8دورية أكاديمية
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
المؤلفون: Della Marina, Adela, Bertolini, Annikki, Wegener-Panzer, Andreas, Flotats-Bastardas, Marina, Reinhardt, Tabea, El Naggar, Ines, Distelmaier, Felix, Blaschek, Astrid, Schara-Schmidt, Ulrike, Brunet, Theresa, Wagner, Matias, Smirnov, Dimitri, Prokisch, Holger, Wortmann, Saskia B., Rostasy, Kevin
المصدر: In European Journal of Paediatric Neurology November 2022 41:27-35