Výsledky vyhledávání - "Beersum, S.E.C. van"

Nail-Patella syndrome: identification of mutations in the LMX1B gene in Dutch families

Autor: Knoers, N.V.A.M., Bongers, M.H.F., Beersum, S.E.C. van, Lommen, E., Bokhoven, J.H.L.M. van, Hol, F.A.

Publikováno v: Journal of the American Society of Nephrology, 11, 1762-1766
Journal of the American Society of Nephrology, 11, pp. 1762-1766

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e2f6222bc9948a84d5a4c2bd648fc58
https://hdl.handle.net/2066/120755

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Hereditary neuropathy with liability to pressure palsies

Autor: Lenssen, P.P.A., Gabreëls-Festen, A.A.W.M., Valentijn, L.J., Jongen, P.J.H., Beersum, S.E.C. van, Engelen, B.G.M. van, Wensen, P.J.M. van, Bolhuis, P.A., Gabreëls, F.J.M., Mariman, E.C.M.

Publikováno v: Brain, 121, 1451-1458
Brain, 121, pp. 1451-1458

Item does not contain fulltext 8 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::883761bafcfcc3f13299eb5878a0b8fb
http://hdl.handle.net/2066/120813

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Altered regulation of PDGFRa transcription in vitro by spina bifida associated mutant Pax1 proteins

Autor: Joosten, P.H.L.J., Hol, F.A., Beersum, S.E.C. van, Peters, H., Hamel, B.C.J., Afink, G.B., Zoelen, E.J.J. van, Mariman, E.C.M.

Publikováno v: Proceedings of the National Academy of Sciences USA, 95, 14459-14463
Proceedings of the National Academy of Sciences USA, 95, pp. 14459-14463

Contains fulltext : 120796.pdf (Publisher’s version ) (Closed access) 5 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::25161bd3d45238291742b55c4328653c
http://hdl.handle.net/2066/120796

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Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease

Autor: Gabreëls-Festen, A.A.W.M., Hoogendijk, J.E., Meijerink, P.H.S., Gabreëls, F.J.M., Bolhuis, P.A., Beersum, S.E.C. van, Kulkens, T., Nelis, E., Jennekens, F.G.I., Visser, M. de, Engelen, B.G.M. van, Broeckhoven, C. van, Mariman, E.C.M.

Publikováno v: Neurology, 47, pp. 761-765
Neurology, 47, 761-765

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::66c4a8909eea817fe64e9fe79164287a
https://hdl.handle.net/2066/23276

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A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1

Autor: Mariman, E.C.M., Beersum, S.E.C. van, Cremers, C.W.R.J., Smits, A.P.T., Ropers, H.H.

Publikováno v: Clinical Otolaryngology and Allied Sciences, 21, 2, pp. 169-169
Clinical Otolaryngology and Allied Sciences, 21, 169-169

Contains fulltext : 23565___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f4495e527a8d8542875cd875af6a3824
https://hdl.handle.net/2066/23565

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus

Autor: Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., Brunner, H.G.

Publikováno v: Cell, 80, 431-437
Cell, 80, pp. 431-437

Item does not contain fulltext 7 p.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::63de5e5a9b089398385df60422cd3b3b
http://hdl.handle.net/2066/21455

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Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'

Autor: Mariman, E.C.M., Beersum, S.E.C. van, Cremers, C.W.R.J., Smits, A.P.T., Ropers, H.H.

Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 139, 16, pp. 859
Nederlands Tijdschrift voor Geneeskunde, 139, 859-859
Nederlands Tijdschrift voor Geneeskunde, 139, 16, pp. 859-859
Nederlands Tijdschrift voor Geneeskunde, 139, 859

Contains fulltext : 21875___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::24a90dd5ae52bd3ae993b9a6f172f245
https://hdl.handle.net/2066/120917

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Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Autor: Vikkula, M., Mariman, E.C.M., Lui, V.C.H., Zhidkova, N.I., Tiller, G.E., Goldring, M.B., Beersum, S.E.C. van, Waal Malefijt, M.C. de, Hoogen, F.H.J. van den, Ropers, H.-H., Mayne, R., Cheah, K.S.E., Olsen, B.R., Warman, M.L., Brunner, H.G.

Publikováno v: Cell, 80, 431-437
Cell, 80, 3, pp. 431-437

Contains fulltext : 21466___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b085172d7ea500e9454f353500ae98b5
http://hdl.handle.net/2066/21466

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Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization

Autor: Bokhoven, J.H.L.M. van, Kissing, J., Schepens, M.T.M., Beersum, S.E.C. van, Simons, A., Riegman, P.H.J., McMahon, J.A., McMahon, A.P., Brunner, H.G.

Publikováno v: Cytogenetic and Genome Research, 77, 288-289
Cytogenetics and Cell Genetics, 77, 3-4, pp. 288-289
Cytogenetic and Genome Research, 77, pp. 288-289
Cytogenetics and Cell Genetics, 77, 288-289

Contains fulltext : 25317.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::08af0d0ea1a64b98039105437d0c6fa8
https://hdl.handle.net/2066/25317

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