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pro vyhledávání: '"Laar, I. van de"'
Autor:
Haelst, M.M. van, Hoogeboom, J.J., Baujat, G., Bruggenwirth, H.T., Laar, I. van de, Coleman, K., Rahman, N., Niermeijer, M.F., Drop, S.L., Scambler, P.J.
Publikováno v:
American Journal of Medical Genetics. Part A, 139, 40-4
American Journal of Medical Genetics. Part A, 139, 1, pp. 40-4
American Journal of Medical Genetics. Part A, 139, 1, pp. 40-4
Contains fulltext : 47843.pdf (Publisher’s version ) (Closed access) A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8fbdecd80260e3977126b1eec008f22c
http://hdl.handle.net/2066/47843
http://hdl.handle.net/2066/47843
Autor:
Laar, I. van de, Rabelink, G., Hochstenbach, R., Tuerlings, J.H.A.M., Hoogeboom, J.J., Giltay, J.
Publikováno v:
Clinical Genetics, 62(5), 376-382. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 62, 376-82
Clinical Genetics, 62, 5, pp. 376-82
Clinical Genetics, 62, 376-82
Clinical Genetics, 62, 5, pp. 376-82
Item does not contain fulltext Diploid/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and/or facial asymmetry, growth retardation, hypotonia, a small phallus, malformed low-set ears and microgna
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fcb03cf2cf54d6bcc2428a89b5fcfa72
https://pure.eur.nl/en/publications/cf58d122-a439-44d7-8388-2937d736f9ac
https://pure.eur.nl/en/publications/cf58d122-a439-44d7-8388-2937d736f9ac