Zobrazeno 1 - 10
of 402
pro vyhledávání: '"Gazzoli, I"'
Autor:
Opmeer L; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Gazzoli I; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Ballmann M; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Willemsen M; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Voshol GP; GenomeScan B.V., Plesmanlaan 1d, 2333 BZ Leiden, The Netherlands., Grudniewska-Lawton M; GenomeScan B.V., Plesmanlaan 1d, 2333 BZ Leiden, The Netherlands., Havenga M; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Yallop C; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Hamidi A; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Gillissen G; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands., Bakker WAM; Batavia Biosciences B.V., Bioscience Park Leiden, Zernikedreef 16, 2333CL Leiden, The Netherlands. Electronic address: w.bakker@bataviabiosciences.com.
Publikováno v:
Vaccine [Vaccine] 2024 Apr 02; Vol. 42 (9), pp. 2475-2484. Date of Electronic Publication: 2024 Mar 19.
Autor:
Rossi, Rachele1,2 (AUTHOR), Torelli, Silvia1,2 (AUTHOR), Moore, Marc1,2,3 (AUTHOR), Ala, Pierpaolo1,2 (AUTHOR), Morgan, Jennifer1,2 (AUTHOR), Malhotra, Jyoti4 (AUTHOR), Muntoni, Francesco1,2 (AUTHOR) f.muntoni@ucl.ac.uk
Publikováno v:
Skeletal Muscle. 11/29/2024, Vol. 14 Issue 1, p1-14. 14p.
Autor:
Riemersma, M., Mandel, H., Beusekom, E. van, Gazzoli, I., Roscioli, T., Eran, A., Gershoni-Baruch, R., Gershoni, M., Pietrokovski, S., Vissers, L.E.L.M., Lefeber, D.J., Willemsen, M.A.A.P., Wevers, R.A., Bokhoven, H. van
Publikováno v:
Neurology, 84(21), 2177-2182. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Neurology, 84, 2177-2182
Neurology, 84, 21, pp. 2177-2182
Item does not contain fulltext OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial calcifications. METHODS: Homozygosity mapping and exome sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::91606157071108ecce55f1c3162d4058
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
https://cris.maastrichtuniversity.nl/en/publications/8b852821-e86d-4e2f-af78-3744ec925afc
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells.
Autor:
Verwey N; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Gazzoli I; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Krause S; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munchen, Germany., Mamchaoui K; Sorbonne Université, INSERM, Institut de Myologie, Myology Research Center, CRM, Paris, France., Mouly V; Sorbonne Université, INSERM, Institut de Myologie, Myology Research Center, CRM, Paris, France., Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Publikováno v:
Nucleic acid therapeutics [Nucleic Acid Ther] 2020 Apr; Vol. 30 (2), pp. 71-79. Date of Electronic Publication: 2019 Dec 23.
Autor:
Russo, A., De Leon, M. P., Lucci-Cordisco, E., Genuardi, M., Messerini, L., Stigliano, V., Cama, A., Curia, M. C., De Lellis, L., Signoroni, S., Pierotti, M. A., Pedroni, M., Benatti, P., Sala, P., Alberici, P., Gazzoli, I., Radice, P., Montefusco, C., Torrini, M., Mareni, C., Fornasarig, M., Santarosa, M., Viel, A., Bertario, L.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3674::e29c290d9a6d7ab277da3aa15896c18c
https://hdl.handle.net/11380/1264845
https://hdl.handle.net/11380/1264845
Autor:
Gazzoli, I.
The human DNA mismatch repair (MMR) system functions to repair mispaired bases in DNA that result from DNA replication errors and thereby prevents the accumulation of mutations due to such replication errors. Hereditary nonpolyposis colorectal cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::915c068094232e53fc089be0311655d2
https://dspace.library.uu.nl/handle/1874/14033
https://dspace.library.uu.nl/handle/1874/14033
Autor:
De Lellis, L, Aceto, G, Curia, Mc, Catalano, Teresa, Radice, P, Sala, P, Bassi, C, Dalla Longa, E, Alberici, P, Montefusco, C, Clauser, R, Gazzoli, I, Bertario, L, Mareni, C, Torrini, M, Montera, M, Battista, P, Mariani Costantini, R, Cama, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fdd090d53d91769c12a68b2853a94310
http://hdl.handle.net/11570/2557877
http://hdl.handle.net/11570/2557877
Autor:
Curia, Mc, De Lellis, L, Aceto, G, Catalano, Teresa, Radice, P, Sala, P, Bassi, C, Dalla Longa, E, Alberici, P, Montefusco, C, Clauser, R, Gazzoli, I, Bertario, L, Mareni, C, Torrini, M, Montera, M, Battista, P, Mariani Costantini, R, Cama, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::f86670ee1dd4d3e257e138c93111ccbe
http://hdl.handle.net/11570/1840430
http://hdl.handle.net/11570/1840430
Autor:
Meza-Menchaca, Thuluz1 (AUTHOR) tmeza@uv.mx, Albores-Medina, Arnulfo2 (AUTHOR) aalbores@cinvestav.mx, Heredia-Mendez, Alma Jaqueline1 (AUTHOR) aesquivel@uv.mx, Ruíz-May, Eliel3 (AUTHOR) eliel.ruiz@inecol.mx, Ricaño-Rodríguez, Jorge4 (AUTHOR) jricano@uv.mx, Gallegos-García, Verónica5 (AUTHOR) veronica.gallegos@uaslp.mx, Esquivel, Adriana1 (AUTHOR) zs21006843@estudiantes.uv.mx, Vettoretti-Maldonado, Giancarlo1 (AUTHOR), Campos-Parra, Alma D.6 (AUTHOR) tmeza@uv.mx
Publikováno v:
International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7927. 25p.