المؤلفون: Matthew A, Lines, Paula, Goldenberg, Ashley, Wong, Siddharth, Srivastava, Allan, Bayat, Hanne, Hove, Helena Gásdal, Karstensen, Kwame, Anyane-Yeboa, Jun, Liao, Nan, Jiang, Alison, May, Edwin, Guzman, Manuela, Morleo, Stefano, D'Arrigo, Claudia, Ciaccio, Chiara, Pantaleoni, Raffaele, Castello, Shane, McKee, Jinfon, Ong, Hana, Zibdeh-Lough, Frederic, Tran-Mau-Them, Anna, Gerasimenko, Delphine, Heron, Boris, Keren, Henri, Margot, Jean-Madeleine, de Sainte Agathe, Lydie, Burglen, Thomas, Voets, Joris, Vriens, A Micheil, Innes, David A, Dyment

المساهمون: Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane-Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D'Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., Mckee, S., Ong, J., Zibdeh-Lough, H., Tran-Mau-Them, F., Gerasimenko, A., Heron, D., Keren, B., Margot, H., de Sainte Agathe, J. -M., Burglen, L., Voets, T., Vriens, J., Innes, A. M., Dyment, D. A.

المصدر: American Journal of Medical Genetics Part A. 188:1667-1675

مصطلحات موضوعية: Epilepsy, Developmental Disabilities, seizure, Infant, Newborn, Mutation, Missense, TRPM Cation Channels, global developmental delay, Infant, Newborn, Diseases, Genematcher, intellectual disability, Exome Sequencing, Genetics, Humans, Muscle Hypotonia, TRPM3, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb8d6a00cf2df5c5fe69c49b089eaabaTest
https://doi.org/10.1002/ajmg.a.62673Test

المؤلفون: Mylène Tharreau, Aurore Garde, Sandrine Marlin, Godelieve Morel, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, Ninon Ternoy, Christian Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin‐Robinet, Frederic Tran Mau‐Them, Laurence Faivre

المصدر: Tharreau, M, Garde, A, Marlin, S, Morel, G, Ernest, S, Nambot, S, Duffourd, Y, Ternoy, N, Duvillard, C, Banka, S, Philippe, C, Thauvin-Robinet, C, Mau-Them, F T & Faivre, L 2022, ' Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62642Test

مصطلحات موضوعية: Genetics, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ea4bd516d7ebfcaee82e2c0f2a64b5Test
https://doi.org/10.1002/ajmg.a.62642Test