المؤلفون: Qian Zhang, Zhen Qin, Ruolan Hu, Yifei Li, Fan Yang, Jinrong Li

المصدر: Frontiers in Medicine, Vol 10 (2023)

مصطلحات موضوعية: KCNK9, OSA, Birk-Barel syndrome, TASK3 channel, case report, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmed.2023.1180337/fullTest; https://doaj.org/toc/2296-858XTest

الوصول الحر: https://doaj.org/article/88525e86b6b044eb938db9c249171009Test

المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/e3306fa1990545148f66b913263d56baTest

المؤلفون: 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

المساهمون: Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vika, Bialer, Martin, Bigoni, Stefania, Boelman, Cyru, Carmichael, Jenny, Courtin, Thoma, 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, Bori, 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

مصطلحات موضوعية: Computational protein modeling, Electrophysiology, KCNK9 imprinting syndrome, Neurodevelopmental disorder, TASK3 channel

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35698242; info:eu-repo/semantics/altIdentifier/wos/WOS:000810679800001; volume:14; issue:1; firstpage:62; journal:GENOME MEDICINE; https://hdl.handle.net/11577/3468250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131795908

الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
https://hdl.handle.net/11577/3468250Test