Zobrazeno 1 - 10
of 640
pro vyhledávání: '"Kleijer, W J"'
Autor:
Dedic, Benjamin1 (AUTHOR), Westerberg, Leo1 (AUTHOR), Mosqueda Solís, Andrea1,2 (AUTHOR), Dumont, Kyle D.3 (AUTHOR), Ruas, Jorge L.3,4 (AUTHOR), Thorell, Anders5 (AUTHOR), Näslund, Erik6 (AUTHOR), Spalding, Kirsty L.1 (AUTHOR) kirsty.spalding@ki.se
Publikováno v:
Aging Cell. Nov2024, Vol. 23 Issue 11, p1-15. 15p.
Autor:
Cooksley, Grace1 (AUTHOR), Nam, Mi‐Hyun1 (AUTHOR), Nahomi, Rooban B.1 (AUTHOR), Rankenberg, Johanna1 (AUTHOR), Smith, Andrew J. O.2 (AUTHOR), Wormstone, Yvette M.2 (AUTHOR), Wormstone, I. Michael2,3 (AUTHOR) michael.wormstone@nottingham.edu.cn, Nagaraj, Ram H.1,4 (AUTHOR) ram.nagaraj@cuanschutz.edu
Publikováno v:
Aging Cell. Oct2024, Vol. 23 Issue 10, p1-14. 14p.
Autor:
Chesnokova, Vera1 (AUTHOR), Zonis, Svetlana1 (AUTHOR), Apaydin, Tugce1 (AUTHOR), Barrett, Robert2 (AUTHOR), Melmed, Shlomo1 (AUTHOR) melmed@csmc.edu
Publikováno v:
Aging Cell. Aug2024, Vol. 23 Issue 8, p1-21. 21p.
Autor:
Tao Zhang1, Haochen Liu1, Liang Zhao2, Yijing Zhang1, Yu Deng1, Yongheng He2 heyongheng1964@163.com
Publikováno v:
Journal of Chinese Pharmaceutical Sciences. May2024, Vol. 33 Issue 5, p396-411. 16p.
Autor:
Bitencourt, Thais Cardoso1 (AUTHOR), Vargas, Jose Eduardo2 (AUTHOR), Silva, Andrew Oliveira3,4 (AUTHOR), Fraga, Lucas Rosa4,5,6 (AUTHOR), Filippi‐Chiela, Eduardo1,4,6,7 (AUTHOR) eduardochiela@gmail.com
Publikováno v:
Aging Cell. Apr2024, Vol. 23 Issue 4, p1-21. 21p.
Autor:
Vervoort, R., Islam, M. R., Sly, W. S., Zabot, M. T., Kleijer, W. J., Chabas, A., Fensom, A., Young, E. P., Liebaers, I., Lissens, W.
Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of presentation of this mucopolysaccharidosis. We used reverse-transcription-PCR-SSCP and direc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c082684da2455d3fba48a7e8426d1ed2
https://europepmc.org/articles/PMC1914559/
https://europepmc.org/articles/PMC1914559/
Autor:
Ligtenberg, M. J. L., Stephan Kemp, Sarde, C. -O, Geel, B. M., Kleijer, W. J., Barth, P. G., Mandel, J. -L, Oost, B. A., Bolhuis, P. A.
Publikováno v:
American Journal of Human Genetics, 56, pp. 44-50
American Journal of Human Genetics, 56, 1, pp. 44-50
Scopus-Elsevier
American journal of human genetics, 56(1), 44-50. Cell Press
American Journal of Human Genetics, 56, 44-50
American Journal of Human Genetics, 56, 1, pp. 44-50
Scopus-Elsevier
American journal of human genetics, 56(1), 44-50. Cell Press
American Journal of Human Genetics, 56, 44-50
X-linked adrenoleukodystrophy (ALD) has been associated with mutations in a gene encoding an ATP-binding transporter, which is located in the peroxisomal membrane. Deficiency of the gene leads to impaired peroxisomal beta-oxidation. Systematic analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1af399f144b848be87aba48b97610c19
https://hdl.handle.net/2066/173869
https://hdl.handle.net/2066/173869
Autor:
Jacek Zaremba, Kleijer, W. J., Huijmans, J. G. M., Poorthuis, B., Fidzianska, E., Glogowska, I.
Publikováno v:
Journal of medical genetics, 29(7). BMJ Publishing Group
Scopus-Elsevier
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d0a9e8dd2fe7937e4fc7da55fe8be201
https://pure.amc.nl/en/publications/chromosomes-14-and-21-as-possible-candidates-for-mapping-the-gene-for-sanfilippo-disease-type-iiic(e62d8581-83bd-4704-8468-a7813f6a8d30).html
https://pure.amc.nl/en/publications/chromosomes-14-and-21-as-possible-candidates-for-mapping-the-gene-for-sanfilippo-disease-type-iiic(e62d8581-83bd-4704-8468-a7813f6a8d30).html