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المؤلفون: Reale, Chiara, Fenger, Christina Duhring, Neu, Axel, Sukno, Sylvie, McKeown, Sarah, Borovikov, Artem, Gorman, Kathleen, Trivisano, Marina, Lo Barco, Tommaso, Krey, Ilona, Navarro, Isabel Maria Moreno, La Selva, Lorita, Bayat, Allan, Bijlsma, Emilia K., Rokkjaer, Mette, Borggrafe, Ingo, Sauders, Carol J., Yis, Uluc, Ram, Dipak, Bierhals, Tatjana, Francannet, Christine, Bonardi, Claudia M., Goldenberg, Alice, Dadali, Elena, Green, Andrew, Cohen, Roni, Muhle, Hiltrud, Beniczky, Sandor, Massingham, Laure, Fusco, Carlo, Specchio, Nicola, Allen, Nicholas M., Cantalupo, Gaetano, Sharkov, Artem, Helbig, Ingo, Gerard, Benedicte, Lessel, Davor, Rubboli, Guido, Moeller, Rikke Steensbjerre, Gardella, Elena, McKeowns, Sarah, Furia, Francesca, Afawi, Zaid, Bernardina, Bernardo Dalla, Campbell, Ww, Fiedler, Barbara, Fontana, Elena, Hall, Ara S., Hoi-Hansen, Christina, Klein, Karl Martin, King, Mary, Lynch, Bryan, Lemke, Johannes, Gaudda, Ama, Nikanorova, Marina, Rahner, Mils, Spagnoli, Carlotta, Banka, Siddarth, Pendziwiat, Manuela
المصدر: Reale, C, Fenger, C D, Neu, A, Sukno, S, McKeown, S, Borovikov, A, Gorman, K, Trivisano, M, Lo Barco, T, Krey, I, Navarro, I M M, La Selva, L, Bayat, A, Bijlsma, E K, Rokkjaer, M, Borggrafe, I, Sauders, C J, Yis, U, Ram, D, Bierhals, T, Francannet, C, Bonardi, C M, Goldenberg, A, Dadali, E, Green, A, Cohen, R, Muhle, H, Beniczky, S, Massingham, L, Fusco, C, Specchio, N, Allen, N M, Cantalupo, G, Sharkov, A, Helbig, I, Gerard, B, Lessel, D, Rubboli, G, Moeller, R S, Gardella, E, McKeowns, S, Furia, F, Afawi, Z, Bernardina, B D, Campbell, W, Fiedler, B, Fontana, E, Hall, A S, Hoi-Hansen, C, Klein, K M, King, M, Lynch, B, Lemke, J, Gaudda, A, Nikanorova, M, Rahner, M, Spagnoli, C, Banka, S & Pendziwiat, M 2021, ' The KCNB1 phenotypic and genetic spectrum ', Epilepsia, vol. 62, no. Suppl. 3, pp. 222-223 . https://doi.org/10.1111/epi.17079
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::44e5aaa0c95588a8ade262380ff0abaa
https://avesis.deu.edu.tr/publication/details/805a79f7-2b1d-4de9-b638-b6917167be55/oai -
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المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
المساهمون: Cox, Timothy M [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Cox, Timothy M. [0000-0002-4951-9941]
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Disease, Cohort Studies, Lysosomal storage diseases, medicine, Humans, Disease-modifying therapies, GAUCHERITE, Pharmacology (medical), Substrate reduction therapy, Prospective Studies, Bone pain, Genetics (clinical), Retrospective Studies, Gaucher Disease, business.industry, Research, Cohort, Genetic disorder, General Medicine, Enzyme replacement therapy, medicine.disease, Orthopedic surgery, Medicine, Glucosylceramidase, Nervous System Diseases, medicine.symptom, business
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المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M.
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, nervous system diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a49422628c9d37d05b6972f396dcd8
Find this article in full text from Springer Verlag.