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1دورية أكاديمية
المؤلفون: Neri, Irene, Ramazzotti, Giulia, Mongiorgi, Sara, Rusciano, Isabella, Bugiani, Marianna, Conti, Luciano, Cousin, Margot, Giorgio, Elisa, Padiath, Quasar S., Vaula, Giovanna, Cortelli, Pietro, Manzoli, Lucia, Ratti, Stefano
المساهمون: Neri, Irene, Ramazzotti, Giulia, Mongiorgi, Sara, Rusciano, Isabella, Bugiani, Marianna, Conti, Luciano, Cousin, Margot, Giorgio, Elisa, Padiath, Quasar S., Vaula, Giovanna, Cortelli, Pietro, Manzoli, Lucia, Ratti, Stefano
مصطلحات موضوعية: ADLD, Cellular Morphology, Cellular Signaling, Demyelination, Lamin B1, Neurodegenerative Disease, Rare Diseases
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37450245; info:eu-repo/semantics/altIdentifier/wos/WOS:001030538200003; volume:60; issue:11; firstpage:6362; lastpage:6372; numberofpages:11; journal:MOLECULAR NEUROBIOLOGY; https://hdl.handle.net/11572/403611Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164811892; https://link.springer.com/article/10.1007/s12035-023-03461-1#rightslinkTest
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2دورية أكاديمية
المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D
المصدر: American Journal of Human Genetics. 103(5)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2061z9kgTest
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3دورية أكاديمية
المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R.
المصدر: Genetics in Medicine ; volume 25, issue 2, page 100359 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.12.006Test
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Ferrer, Alejandro, Duffy, Patrick, Olson, Rory J., Meiners, Michael A., Schultz-Rogers, Laura, Macke, Erica L., Safgren, Stephanie, Morales-Rosado, Joel A., Cousin, Margot A., Oliver, Gavin R., Rider, David, Williams, Megan, Pichurin, Pavel N., Deyle, David R., Morava, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klass J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica
المصدر: Human Genetics; May2024, Vol. 143 Issue 5, p649-666, 18p
مصطلحات موضوعية: ONLINE databases, INDIVIDUALIZED medicine, RARE diseases, PATHOLOGICAL laboratories, GENETIC variation
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5دورية أكاديمية
المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X
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6دورية أكاديمية
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.
المصدر: Cousin , M A , Veale , E L , Dsouza , N R , Tripathi , S , Holden , R G , Arelin , M , Beek , G , Bekheirnia , M R , Beygo , J , Bhambhani , V , Bialer , M , Bigoni , S , Boelman , C , Carmichael , J , Courtin , T , Cogne , B , Dabaj , I , Doummar , D , Fazilleau , L , Ferlini , A , Gavrilova , R H , Graham , J M , Haack , T B ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
https://pure.eur.nl/en/publications/ab07b83f-7838-4725-a4e2-053424a52b24Test
https://pure.eur.nl/ws/files/60123421/s13073_022_01064_4.pdfTest
http://www.scopus.com/inward/record.url?scp=85131795908&partnerID=8YFLogxKTest -
7دورية أكاديمية
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
مصطلحات موضوعية: R Medicine (General), RJ Pediatrics, RM Therapeutics. Pharmacology
وصف الملف: text
العلاقة: https://oars.uos.ac.uk/2545/1Test/Cousin%20et%20al%202022.pdf; 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 and Klee, Eric W (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome medicine, 14 (62). pp. 1-19. ISSN 1756-994X
الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
http://oars.uos.ac.uk/2545Test/
https://oars.uos.ac.uk/2545/1Test/Cousin%20et%20al%202022.pdf -
8دورية أكاديمية
المؤلفون: Rajan, Deepa S., Kour, Sukhleen, Fortuna, Tyler R., Cousin, Margot A., Barnett, Sarah S., Niu, Zhiyv, Babovic-Vuksanovic, Dusica, Klee, Eric W., Kirmse, Brian, Innes, Micheil, Rydning, Siri Lynne, Selmer, Kaja Kristine, Vigeland, Magnus Dehli, ERICHSEN, ANNE KJERSTI, Nemeth, Andrea H., Millan, Francisca, DeVile, Catherine, Fawcett, Katherine, Legendre, Adrien, Sims, David, Schnekenberg, Ricardo Parolin, Burglen, Lydie, Mercier, Sandra, Bakhtiari, Somayeh, Francisco-Velilla, Rosario, Embarc-Buh, Azman, Martinez-Salas, Encarnacion, Wigby, Kristen, Lenberg, Jerica, Friedman, Jennifer R., Kruer, Michael C., Pandey, Udai Bhan
المصدر: 2296-634X.
العلاقة: Rajan, Deepa S. Kour, Sukhleen Fortuna, Tyler R. Cousin, Margot A. Barnett, Sarah S. Niu, Zhiyv Babovic-Vuksanovic, Dusica Klee, Eric W. Kirmse, Brian Innes, Micheil Rydning, Siri Lynne Selmer, Kaja Kristine Vigeland, Magnus Dehli ERICHSEN, ANNE KJERSTI Nemeth, Andrea H. Millan, Francisca DeVile, Catherine Fawcett, Katherine Legendre, Adrien Sims, David Schnekenberg, Ricardo Parolin Burglen, Lydie Mercier, Sandra Bakhtiari, Somayeh Francisco-Velilla, Rosario Embarc-Buh, Azman Martinez-Salas, Encarnacion Wigby, Kristen Lenberg, Jerica Friedman, Jennifer R. Kruer, Michael C. Pandey, Udai Bhan . Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Frontiers in Cell and Developmental Biology. 2022, 10:783762, 1-14; http://hdl.handle.net/10852/101459Test; 2016407; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Frontiers in Cell and Developmental Biology&rft.volume=10:783762&rft.spage=1&rft.date=2022; Frontiers in Cell and Developmental Biology; 10; https://doi.org/10.3389/fcell.2022.783762Test
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9دورية أكاديمية
المؤلفون: Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Quintero-Castro, Diana Lucia, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail E., Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Natalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja Kristine, Urreizti, R, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bonnemann, Carsten, Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
المصدر: 2041-1723.
العلاقة: http://urn.nb.no/URN:NBN:no-95561Test; Kour, Sukhleen Rajan, Deepa S. Fortuna, Tyler R. Anderson, Eric N. Ward, Caroline Lee, Youngha Lee, Sangmoon Shin, Yong Beom Chae, Jong-Hee Choi, Murim Siquier, Karine Cantagrel, Vincent Amiel, Jeanne Stolerman, Elliot S. Barnett, Sarah S. Cousin, Margot A. Quintero-Castro, Diana Lucia McDonald, Kimberly Kirmse, Brian Nemeth, Andrea H. Rajasundaram, Dhivyaa Innes, A. Micheil Lynch, Danielle Frosk, Patrick Collins, Abigail E. Gibbons, Melissa Yang, Michele Desguerre, Isabelle Boddaert, Natalie Gitiaux, Cyril Rydning, Siri Lynne Selmer, Kaja Kristine Urreizti, R Garcia-Oguiza, Alberto Osorio, Andrés Nascimento Verdura, Edgard Pujol, Aurora McCurry, Hannah R. Landers, John E. Agnihotri, Sameer Andriescu, E. Corina Moody, Shade B. Phornphutkul, Chanika Sacoto, Maria J. Guillen Begtrup, Amber Houlden, Henry Kirschner, Janbernd Schorling, David Rudnik-Schöneborn, Sabine Strom, Tim M. Leiz, Steffen Juliette, Kali Richardson, Randal Yang, Ying Zhang, Yuehua Wang, Minghui Wang, Jia Wang, Xiaodong Platzer, Konrad Donkervoort, Sandra Bonnemann, Carsten Wagner, Matias Issa, Mahmoud Y. Elbendary, Hasnaa M. Stanley, Valentina Maroofian, Reza Gleeson, Joseph G. Zaki, Maha S. Senderek, Jan Pandey, Udai Bhan . Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 2021, 12(1), 1-15; http://hdl.handle.net/10852/92987Test; 2003066; info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Communications&rft.volume=12&rft.spage=1&rft.date=2021; Nature Communications; 12; https://doi.org/10.1038/s41467-021-22627-wTest; URN:NBN:no-95561; Fulltext https://www.duo.uio.no/bitstream/handle/10852/92987/1/Loss%2Bof%2Bfunction%2Bmutations%2Bin%2BGEMIN5%2Bcause%2Ba.pdfTest
الإتاحة: https://doi.org/10.1038/s41467-021-22627-wTest
http://hdl.handle.net/10852/92987Test
http://urn.nb.no/URN:NBN:no-95561Test -
10دورية أكاديمية
المؤلفون: Klee, Eric, Macke, Erica, Cousin, Margot, Jenkinson, Garrett, Leontovich, Alexey, Oliver, Gavin, Olson, Rory, Osborne, Collin
المصدر: Genetics in Medicine ; volume 24, issue 3, page S96-S97 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.01.194Test
https://api.elsevier.com/content/article/PII:S1098360022002118?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022002118?httpAccept=text/plainTest
