Zobrazeno 1 - 10
of 1 065
pro vyhledávání: '"VAN HUL, E"'
Autor:
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti AM, Helfrich MH, Rogers MJ, Villa A, Van Hul W.
Publikováno v:
The Journal of clinical investigation 117 (2007): 919–930. doi:10.1172/JCI30328
info:cnr-pdr/source/autori:Van Wesenbeeck L; Odgren PR; Coxon FP; Frattini A; Moens P; Perdu B; MacKay CA; Van Hul E; Timmermans JP; Vanhoenacker F; Jacobs R; Peruzzi B; Teti AM; Helfrich MH; Rogers MJ; Villa A; Van Hul W./titolo:Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W./doi:10.1172%2FJCI30328/rivista:The Journal of clinical investigation/anno:2007/pagina_da:919/pagina_a:930/intervallo_pagine:919–930/volume:117
info:cnr-pdr/source/autori:Van Wesenbeeck L; Odgren PR; Coxon FP; Frattini A; Moens P; Perdu B; MacKay CA; Van Hul E; Timmermans JP; Vanhoenacker F; Jacobs R; Peruzzi B; Teti AM; Helfrich MH; Rogers MJ; Villa A; Van Hul W./titolo:Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W./doi:10.1172%2FJCI30328/rivista:The Journal of clinical investigation/anno:2007/pagina_da:919/pagina_a:930/intervallo_pagine:919–930/volume:117
This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis. Elect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::e9314ad5d52044f4b48e085ee45cd97f
https://publications.cnr.it/doc/183977
https://publications.cnr.it/doc/183977
Publikováno v:
In Bone January 2014 58:67-71
Autor:
Marcelis S; AZ Nikolaas, BE., Van Hul E; AZ Nikolaas, BE.
Publikováno v:
Journal of the Belgian Society of Radiology [J Belg Soc Radiol] 2021 Oct 18; Vol. 105 (1), pp. 60. Date of Electronic Publication: 2021 Oct 18 (Print Publication: 2021).
Autor:
Katchkovsky S; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Meiri R; Department of Computer Science, Bar-Ilan University, Ramat Gan, Israel., Lacham-Hartman S; Avram and Stella Goldstein-Goren Department of Biotechnology Engineering and the National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Orenstein Y; Department of Computer Science, Bar-Ilan University, Ramat Gan, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Levaot N; Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Papo N; Avram and Stella Goldstein-Goren Department of Biotechnology Engineering and the National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Publikováno v:
FEBS letters [FEBS Lett] 2024 Oct 23. Date of Electronic Publication: 2024 Oct 23.
Autor:
Amajjar, Ihsane1,2 (AUTHOR) i.amajjar@olvg.nl, Vergauwen, Kuni2,3,4,5 (AUTHOR), Willigenburg, Nienke W.1 (AUTHOR), Ham, S. John1 (AUTHOR), Smeets, Rob J. E. M.3,5,6 (AUTHOR)
Publikováno v:
PLoS ONE. 7/17/2024, Vol. 19 Issue 7, p1-16. 16p.
Autor:
Oliver GR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Conboy E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Pinto E Vairo F; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Webley M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Thorland E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Ferber M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Van Hul E; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., van der Werf IM; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Wuyts W; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e00560. Date of Electronic Publication: 2019 Jan 10.
Autor:
VAN WESENBEECK, L, Odgren, P. R., Coxon, F. P., Frattini, A, Moens, P, Perdu, B, Mackay, C. A., VAN HUL, E, Timmermans, J. P., Vanhoenacker, F, Jacobs, R, Peruzzi, B, Teti, ANNA MARIA, Helfrich, M. H., Rogers, M. J., Villa, A, VAN HUL, W.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3983::c70199e05832709f3cdec030e8ee0b26
http://hdl.handle.net/11697/1410
http://hdl.handle.net/11697/1410
Autor:
Balemans, W., Patel, N., Ebeling, M., Van Hul, E., Wuyts, W., Lacza, C., Dioszegi, M., Dikkers, F. G., Hildering, P., Willems, P. J., Verheij, J. B. G. M., Lindpaintner, K., Vickery, B., Foernzler, D., Van Hul, W.
Publikováno v:
Journal of Medical Genetics; Feb2002, Vol. 39 Issue 2, p91-97, 8p, 1 Black and White Photograph, 2 Diagrams, 1 Chart
Autor:
Gnoli, Maria1 (AUTHOR), Gambarotti, Marco2 (AUTHOR), Righi, Alberto2 (AUTHOR), Staals, Eric Lodewijk3 (AUTHOR), Evangelista, Andrea4 (AUTHOR), Tremosini, Morena1 (AUTHOR), Brizola, Evelise1 (AUTHOR), Mordenti, Marina1 (AUTHOR) marina.mordenti@ior.it, Boarini, Manila1 (AUTHOR), Locatelli, Manuela1 (AUTHOR), Pedrini, Elena1 (AUTHOR), Sangiorgi, Luca1 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/13/2024, Vol. 19 Issue 1, p1-10. 10p.
Autor:
Scheele, Christian1 (AUTHOR) christian.scheele@mri.tum.de, Toepfer, Andreas2 (AUTHOR) andreas.toepfer@kssg.ch, Beischl, Simone1 (AUTHOR) norbert.harrasser@mri.tum.de, Dammerer, Dietmar3 (AUTHOR) dietmar.dammerer@krems.lknoe.at, Harrasser, Norbert1 (AUTHOR) eisenhart@tum.de, von Eisenhart-Rothe, Rüdiger1 (AUTHOR) florian.lenze@mri.tum.de, Lenze, Florian1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Jan2024, Vol. 13 Issue 2, p350. 13p.