检索结果 - Neuser, Sonja

Pharmacological inhibition of focal segmental glomerulosclerosis‐related, gain of function mutants of TRPC6 channels by semi‐synthetic derivatives of larixol 由 Urban, Nicole, Neuser, Sonja, Hentschel, Anika, Köhling, Sebastian, Rademann, Jörg, Schaefer, Michael

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In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas 由 Le Duc, Diana, Hentschel, Julia, Neuser, Sonja, Stiller, Mathias, Meier, Carolin, Jäger, Elisabeth, Abou Jamra, Rami, Platzer, Konrad, Monecke, Astrid, Ziemer, Mirjana, Markovic, Aleksander, Bläker, Hendrik, Lemke, Johannes R.

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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain 由 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

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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia 由 Ebrahimi-Fakhari, Darius, Alecu, Julian E, Brechmann, Barbara, Ziegler, Marvin, Eberhardt, Kathrin, Jumo, Hellen, D’Amore, Angelica, Habibzadeh, Parham, Faghihi, Mohammad Ali, De Bleecker, Jan L, Vuillaumier-Barrot, Sandrine, Auvin, Stéphane, Santorelli, Filippo M, Neuser, Sonja, Popp, Bernt, Yang, Edward, Barrett, Lee, Davies, Alexandra K, Saffari, Afshin, Hirst, Jennifer, Sahin, Mustafa

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies 由 Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, Syrbe, Steffen

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 由 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.

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