Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Banka, Siddarth"'
Autor:
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
Publikováno v:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::44e5aaa0c95588a8ade262380ff0abaa
https://avesis.deu.edu.tr/publication/details/805a79f7-2b1d-4de9-b638-b6917167be55/oai
https://avesis.deu.edu.tr/publication/details/805a79f7-2b1d-4de9-b638-b6917167be55/oai
Autor:
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.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2019fd6ca96eb1cda8c25a96cb5b49d
https://doi.org/10.1186/s13023-021-02034-6
https://doi.org/10.1186/s13023-021-02034-6
Akademický článek
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Autor:
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.
Additional file 1. Deep Phenotyping of Gaucher disease with supplementary materials, methods, results and references.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58a49422628c9d37d05b6972f396dcd8