Výsledky vyhledávání - Radtke, Maximilian
- Zobrazuji výsledky 1 - 7 z 7
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Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders Autor Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Vydáno 2021Text -
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A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression Autor Langemeier, Jörg, Schrom, Eva-Maria, Rabner, Alona, Radtke, Maximilian, Zychlinski, Daniela, Saborowski, Anna, Bohn, Georg, Mandel-Gutfreund, Yael, Bodem, Jochen, Klein, Christoph, Bohne, Jens
Vydáno 2012Text -
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RNA polymerase II-binding aptamers in human ACRO1 satellites disrupt transcription in cis Autor Boots, Jennifer L., von Pelchrzim, Frederike, Weiss, Adam, Zimmermann, Bob, Friesacher, Theres, Radtke, Maximilian, Żywicki, Marek, Chen, Doris, Matylla-Kulińska, Katarzyna, Zagrovic, Bojan, Schroeder, Renée
Vydáno 2020Text -
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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain Autor Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt
Vydáno 2021Text -
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The spliceosome-associated protein Nrl1 suppresses homologous recombination-dependent R-loop formation in fission yeast Autor Aronica, Lucia, Kasparek, Torben, Ruchman, David, Marquez, Yamile, Cipak, Lubos, Cipakova, Ingrid, Anrather, Dorothea, Mikolaskova, Barbora, Radtke, Maximilian, Sarkar, Sovan, Pai, Chen-Chun, Blaikley, Elizabeth, Walker, Carol, Shen, Kuo-Fang, Schroeder, Renee, Barta, Andrea, Forsburg, Susan L., Humphrey, Timothy C.
Vydáno 2016Text -
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome Autor Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Vydáno 2022Text