Zobrazeno 1 - 10
of 2 216
pro vyhledávání: '"Fryns, J P"'
Publikováno v:
Community Genetics, 2001 Jan 01. 4(1), 43-49.
Externí odkaz:
https://www.jstor.org/stable/26664527
Publikováno v:
Community Genetics, 2001 Jan 01. 4(2), 109-122.
Externí odkaz:
https://www.jstor.org/stable/26664541
Autor:
Vylet'al, P., Kublová, M., Kalbáčová, M., Hodaňová, K., Barešová, V., Stibůrková, B., Sikora, J., Hůlková, H., živný, J., Majewski, J., Simmonds, A., Fryns, J.-P., Venkat-Raman, G., Elleder, M., Kmoch, S. *
Publikováno v:
In Kidney International 2 September 2006 70(6):1155-1169
Autor:
Debeer, Ph. *, Van Esch, H., Huysmans, C., Pijkels, E., De Smet, L., Van de Ven, W., Devriendt, K., Fryns, J.-P.
Publikováno v:
In European Journal of Medical Genetics 2005 48(4):377-387
Autor:
Van Buggenhout, G. *, Van Ravenswaaij-Arts, C., MC Maas, N., Thoelen, R., Vogels, A., Smeets, Dominique, Salden, I., Matthijs, G., Fryns, J.-P., Vermeesch, J.R.
Publikováno v:
In European Journal of Medical Genetics 2005 48(3):276-289
Autor:
Schrander-Stumpel, C., Fryns, J.-P.
Publikováno v:
European Journal of Pediatrics. 1998, Vol. 157 Issue 5, p355-362. 8p.
Autor:
Metaxotou, C., Genuardi, M., Piombo, G., Schneider, F., Smeets, D., Ouweland, A. van den, Pacheco, P., Correia, H., Binkert, F., Gabarrón, J., Gallano, P., Kristoffersson, U., Anvret, M., Howell, R., Stenhouse, S., Kroisel, P.M., Fryns, J.-P., Matthijs, G., Brøndum-Nielsen, K., Vejerslev, L., Koskull, H. van, Giraudon, E., Saura, R., Held, K., Müller-Reible, C.R.
Publikováno v:
European Journal of Human Genetics, 5, 342-350
European Journal of Human Genetics, 5, 6, pp. 342-350
European Journal of Human Genetics, 5, 6, pp. 342-350
Contains fulltext : 24731___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::96e259263560449aa8bdfc664e21892f
https://hdl.handle.net/2066/24731
https://hdl.handle.net/2066/24731
Akademický článek
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WOS: 000301174200004
PubMed ID: 22327602
Background: In 1967, Cross et al. [J Pediatr 1967; 70: 398-406] reported four siblings with intellectual disability, microcephaly, neurologic and ocular disorders, and hypopigmentation involving skin
PubMed ID: 22327602
Background: In 1967, Cross et al. [J Pediatr 1967; 70: 398-406] reported four siblings with intellectual disability, microcephaly, neurologic and ocular disorders, and hypopigmentation involving skin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9436::bbc339c1a11fcc43508efbaab30bc1e7
https://hdl.handle.net/11454/44821
https://hdl.handle.net/11454/44821
Publikováno v:
Scopus-Elsevier
A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes: Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant genetic disorder and is characterized by mental retardation, distinctive facial feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2c3b9e68289d04b1e7c633b00e9abaa6
https://avesis.erciyes.edu.tr/publication/details/5d870610-75ac-413c-a107-46aa767c89fd/oai
https://avesis.erciyes.edu.tr/publication/details/5d870610-75ac-413c-a107-46aa767c89fd/oai