Resultados da pesquisa - Radtke, Maximilian
- A mostrar 1 - 7 resultados de 7
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Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders Por Klau, Julia, Abou Jamra, Rami, Radtke, Maximilian, Oppermann, Henry, Lemke, Johannes R., Beblo, Skadi, Popp, Bernt
Publicado em 2021Text -
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A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression Por Langemeier, Jörg, Schrom, Eva-Maria, Rabner, Alona, Radtke, Maximilian, Zychlinski, Daniela, Saborowski, Anna, Bohn, Georg, Mandel-Gutfreund, Yael, Bodem, Jochen, Klein, Christoph, Bohne, Jens
Publicado em 2012Text -
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RNA polymerase II-binding aptamers in human ACRO1 satellites disrupt transcription in cis Por 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
Publicado em 2020Text -
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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain Por 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
Publicado em 2021Text -
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The spliceosome-associated protein Nrl1 suppresses homologous recombination-dependent R-loop formation in fission yeast Por 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.
Publicado em 2016Text -
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome Por 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.
Publicado em 2022Text