المؤلفون: Wang, Yangong, Xu, Yiran, Zhou, Chongchen, Cheng, Ye, Qiao, Niu, Shang, Qing, Xia, Lei, Song, Juan, Gao, Chao, Qiao, Yimeng, Zhang, Xiaoli, Li, Ming, Ma, Caiyun, Fan, Yangyi, Peng, Xirui, Wu, Silin, Lv, Nan, Li, Bingbing, Sun, Yanyan, Zhang, Bohao, Li, Tongchuan, Li, Hongwei, Zhang, Jin, Su, Yu, Li, Qiaoli, Yuan, Junying, Liu, Lei, Moreno-De-Luca, Andres, Maclennan, Alastair H., Gecz, Jozef, Zhu, Dengna, Wang, Xiaoyang, 1965, Zhu, Changlian, Xing, Qinghe

المصدر: NATURE MEDICINE. 30:1395-1405

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik

الوصول الحر: https://gup.ub.gu.se/publication/338889Test

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

المؤلفون: Kayumi, Sayaka, Pérez-Jurado, Luis A, Palomares, María, Rangu, Sneha, Sheppard, Sarah E, Chung, Wendy K, Kruer, Michael C, Kharbanda, Mira, Amor, David J, McGillivray, George, Cohen, Julie S, García-Miñaúr, Sixto, van Eyk, Clare L, Harper, Kelly, Jolly, Lachlan A, Webber, Dani L, Barnett, Christopher P, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela Del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A, Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R, Bhoj, Elizabeth J, Li, Dong, Ortiz-Gonzalez, Xilma R, Keena, Beth, Zackai, Elaine H, Goldberg, Ethan M, Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L, Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E, Stegmann, Alexander P A, Sinnema, Margje, Stevens, Servi C J, Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W, Procopio, Rebecca A, Millan, Francisca, Morrow, Michelle M, Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J, Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H, Gecz, Jozef, Corbett, Mark A

المساهمون: Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Genetics(clinical), Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/447367Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/447367Test

المؤلفون: MacLennan, Matthew H., le Roux, André

المصدر: BMC Geriatrics ; volume 22, issue 1 ; ISSN 1471-2318

مصطلحات موضوعية: Geriatrics and Gerontology

الإتاحة: https://doi.org/10.1186/s12877-022-03422-8Test

المؤلفون: van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H., Gecz, J.

المساهمون: Department of Health | National Health and Medical Research Council, Cerebral Palsy Alliance Research Foundation, Hospital Research Foundation

المصدر: npj Genomic Medicine ; volume 6, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-021-00238-0Test
https://www.nature.com/articles/s41525-021-00238-0.pdfTest
https://www.nature.com/articles/s41525-021-00238-0Test

المؤلفون: Pham, Ryan, Mol, Ben W, Gecz, Jozef, MacLennan, Alastair H, MacLennan, Suzanna C, Corbett, Mark A, van Eyk, Clare L, Webber, Dani L, Palmer, Lyle J, Berry, Jesia G

المساهمون: Cerebral Palsy Alliance Research Foundation, National Health and Medical Research Council

المصدر: Developmental Medicine & Child Neurology ; volume 62, issue 9, page 1024-1030 ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/dmcn.14585Test

المؤلفون: Inoue, Shinya, Gu, Jianguo, Miyoshi, Eiji, Asahi, Michio, Ikeda, Yoshitaka, Aze, Yoshiya, Fujii, Junichi, Suzuki, Keiichiro, Shapiro, Steven D., Lopez-Otin, Carlos, Okabe, Masaru, Honke, Koichi, Taniguchi, Naoyuki, MacLennan, David H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2005 Nov 01. 102(44), 15791-15796.

الوصول الحر: https://www.jstor.org/stable/4143278Test

المؤلفون: Einholm, Anja Pernille, Toustrup-Jensen, Mads, Andersen, Jens Peter, Vilsen, Bente, MacLennan, David H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2005 Aug 01. 102(32), 11254-11259.

الوصول الحر: https://www.jstor.org/stable/3376254Test

المؤلفون: Zamoon, J., Nitu, F., Karim, C., Thomas, D. D., Vegila, G., MacLennan, David H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2005 Mar . 102(13), 4747-4752.

الوصول الحر: https://www.jstor.org/stable/3375121Test

المؤلفون: Gramolini, Anthony O., Kislinger, Thomas, Asahi, Michio, Li, Wenping, Emili, Andrew, MacLennan, David H.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2004 Nov . 101(48), 16807-16812.

الوصول الحر: https://www.jstor.org/stable/3373911Test