Søgeresultater - Kayani, Saima
- Showing 1 - 7 results of 7
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region af Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna
Udgivet 2019Text -
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome af Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Ahmed, Heba M. Jalal, Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, María Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukas, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.
Udgivet 2019Text -
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome af Palmer, Elizabeth E., Hong, Seungbeom, Al Zahrani, Fatema, Hashem, Mais O., Aleisa, Fajr A., Jalal Ahmed, Heba M., Kandula, Tejaswi, Macintosh, Rebecca, Minoche, Andre E., Puttick, Clare, Gayevskiy, Velimir, Drew, Alexander P., Cowley, Mark J., Dinger, Marcel, Rosenfeld, Jill A., Xiao, Rui, Cho, Megan T., Yakubu, Suliat F., Henderson, Lindsay B., Guillen Sacoto, Maria J., Begtrup, Amber, Hamad, Muddathir, Shinawi, Marwan, Andrews, Marisa V., Jones, Marilyn C., Lindstrom, Kristin, Bristol, Ruth E., Kayani, Saima, Snyder, Molly, Villanueva, Marıá Mercedes, Schteinschnaider, Angeles, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Merzaban, Jasmeen, Jaremko, Łukasz, Jaremko, Mariusz, Sachdev, Rani K., Alkuraya, Fowzan S., Arold, Stefan T.
Udgivet 2019Text -
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome af 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.
Udgivet 2022Text