Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Verheij, JBGM"'
Autor:
Tang, CS, Hui, KJWS, Sham, PC, Tam, PKH, Cherny, SS, Leon, YY, So, MT, Burzynski, G, De Vries, AR, Miao, XP, Sribudiani, Y, Hofstra, RMW, Verheij, JBGM, GarciaBarceló, MM, Osinga, J, Yip, BH
Publikováno v:
HUMAN GENETICS, 127(6), 675-683. SPRINGER
Human Genetics
Human Genetics
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1c4b62de08442e6fe426de0c7403da
https://hdl.handle.net/11370/09b19326-689d-44ee-bcd0-c1c0e9b236fd
https://hdl.handle.net/11370/09b19326-689d-44ee-bcd0-c1c0e9b236fd
Autor:
Alders, M, Mendola, A, Ades, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, Sander, Jagadeesh, S, Kayserili, H, Keng, WT, Lev, D, Prada, CE, Sampson, JR, Schmidtke, J, Shashi, V, Bever, Yolande, Van der Aa, N, Verhagen, Judith, Verheij, JBGM, Vikkula, M, Hennekam, RCM
Publikováno v:
Molecular syndromology, 4(3), 107-113. S. Karger AG
Molecular Syndromology, 107-113. Karger
STARTPAGE=107;ENDPAGE=113;ISSN=1661-8769;TITLE=Molecular Syndromology
Molecular Syndromology, 107-113. Karger
STARTPAGE=107;ENDPAGE=113;ISSN=1661-8769;TITLE=Molecular Syndromology
The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d4b71f6c5a2d50af8e560dfc78b92002
https://europepmc.org/articles/PMC3638933/
https://europepmc.org/articles/PMC3638933/
Autor:
de Walle, HEK, Henneman, L, Verheij, JBGM, Beemer, FA, Broertjes, JJS, Springer, CP, ten Kate, LP
Publikováno v:
European Journal of Human Genetics, 10, 194-194. Nature Publishing Group
de Walle, HEK, Henneman, L, Verheij, JBGM, Beemer, FA, Broertjes, JJS, Springer, CP & ten Kate, LP 2002, ' Community Genetics in the Netherlands: past and future ', European Journal of Human Genetics, vol. 10, pp. 194-194 .
de Walle, HEK, Henneman, L, Verheij, JBGM, Beemer, FA, Broertjes, JJS, Springer, CP & ten Kate, LP 2002, ' Community Genetics in the Netherlands: past and future ', European Journal of Human Genetics, vol. 10, pp. 194-194 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8bd89bfd8aef029ec1a9f9351e1a70c1
https://research.vumc.nl/en/publications/77f7392e-68f9-4e16-9a19-38bd518b5b16
https://research.vumc.nl/en/publications/77f7392e-68f9-4e16-9a19-38bd518b5b16
Publikováno v:
Community Genetics, 2, 74-81. Karger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::6f3aaa6c362893174433b67b50edf818
https://pure.eur.nl/en/publications/d4c51d3f-e4f9-4e41-9832-15088fd04e75
https://pure.eur.nl/en/publications/d4c51d3f-e4f9-4e41-9832-15088fd04e75
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 142(13), 706-710. Bohn Stafleu van Loghum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::9a25146364c42b22ac2c5cded14bf3cd
https://pure.eur.nl/en/publications/258363ef-3995-487d-a8c8-b28089873541
https://pure.eur.nl/en/publications/258363ef-3995-487d-a8c8-b28089873541
Autor:
Wildhagen, MF, Verheij, JBGM, Hilderink, HBM, Kooij, L, Tijmstra, T, tenKate, LP, Gerritsen, J, Bakker, W, Habbema, JDF
Publikováno v:
Thorax, 51(3), 298-301. BMJ PUBLISHING GROUP
Background - Research on the cost of care of patients with cystic fibrosis is scarce. The aim of this study was to estimate the costs using age-specific medical consumption from real patient data. Methods - The age-specific medical consumption of pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::50595287335ca1353c19585d12ec81ce
https://research.rug.nl/en/publications/580d72d1-aaf9-4372-831c-ae6af12adb72
https://research.rug.nl/en/publications/580d72d1-aaf9-4372-831c-ae6af12adb72
Autor:
VERHEIJ, JBGM, TENKATE, LP
Publikováno v:
Human heredity, 43(4), 223-231. KARGER
We report here a database listing Mendelian phenotypes described in the Netherlands and/or in populations originating from this country, and describe the results of a quantitative analysis of the database. The database is specifically directed at the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::3d979e7bec9a25019762c23707c9651d
https://research.rug.nl/en/publications/86840837-7e2a-468a-afcb-8b25d70fd949
https://research.rug.nl/en/publications/86840837-7e2a-468a-afcb-8b25d70fd949
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