Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Ruissen, F. van"'
1
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
Autor: Paassen, B.W. van, Bronk, M., Verhamme, C., Ruissen, F. van, Baas, F., Spaendonck-Zwarts, K.Y. van, Visser, M. de
Publikováno v: Journal of the peripheral nervous system, 22(4), 464-467. Wiley-Blackwell
Journal of the Peripheral Nervous System, 22(4), 464-467
We report a family in which an autosomal dominantly inherited Charcot-Marie-Tooth (CMT) disease type 2 was suspected. The affected family members (proband, sister, father, and paternal aunt) showed intrafamilial clinical variability. The proband need
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6156c61fe32607d03c20645d5fa49c72
https://hdl.handle.net/1887/116377
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2
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Autor: Dijk, T. van, Ruissen, F. van, Jaeger, B., Rodenburg, R.J.T., Tamminga, S., Maarle, M. van, Baas, F., Wolf, N.I., Poll-The, B.T.
Publikováno v: Jimd Reports, 33, 87-92
JIMD reports, 33, 87-92. Springer Berlin
Jimd Reports, 33, pp. 87-92
Item does not contain fulltext Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e67f7c357f064c44ad4d22f4b6b99473
http://hdl.handle.net/2066/173929
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3
Serial analysis of gene expression in human keratinocytes and epidermis
Autor: Jansen, B.J.H., Jongh, G.J. de, Schalkwijk, J., Ruissen, F. van
Publikováno v: Methods in Molecular Biology, 289, pp. 383-98
Methods in Molecular Biology, 289, 383-98
Item does not contain fulltext The demand for large-scale gene expression analysis tools is on the rise now that several genomes have been sequenced. One of these tools, serial analysis of gene expression (SAGE), allows the qualitative as well as qua
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::854aa418cde07a73992ddc7ea3616733
https://hdl.handle.net/2066/48161
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4
Differential gene expression in premalignant human epidermis revealed by cluster analysis of serial analysis of gene expression (SAGE) libraries
Autor: Ruissen, F. van, Jansen, B.J.H., Jongh, G.J. de, Vlijmen-Willems, I.M.J.J. van, Schalkwijk, J.
Publikováno v: The Faseb Journal, 16, 2, pp. 246-8
The Faseb Journal, 16, 246-8
Item does not contain fulltext Serial analysis of gene expression (SAGE) has been used for quantitative analysis of gene expression. We applied cluster analysis on multiple SAGE libraries derived from premalignant epidermal tissue (actinic keratosis)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ac9aabfdc675ee0fa742bae6aa23c696
https://hdl.handle.net/2066/200855
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9
The Phenotype of the Gly94Fsx222 Pmp22 Insertion
Autor: Vries, S.C. de, Kooi, A.J. van der, Verhamme, C., Ruissen, F. van, Arts, W.F.M., Mauser, H, Kerkhoff, H., Engelen, B.G.M. van, Visser, M. de, Baas, F.
Publikováno v: Journal of the Peripheral Nervous System, 14, 40-40
Journal of the Peripheral Nervous System, 14, pp. 40-40
Contains fulltext : 81357.pdf (Publisher’s version ) (Closed access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7cb25c1f33ed83a20952c5e08d5a98d1
https://hdl.handle.net/2066/81357
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10
Periodical
Signal Transduction Pathways in Epidermal Proliferation and Cutaneous Inflammation
Autor: Ruissen, F. Van, Kerkhof, P. C. M. Van de, Schalkwijk, J.
Publikováno v: Clinics in Dermatology; 1995, Vol. 13 Issue: 2 p161-161, 1p
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