Zobrazeno 1 - 10
of 2 943
pro vyhledávání: '"Anvret, M"'
Mutations of von Willebrand Factor Gene in Families with von Willebrand Disease in the Aland Islands
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1993 Sep 01. 90(17), 7937-7940.
Externí odkaz:
https://www.jstor.org/stable/2362939
Akademický článek
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Akademický článek
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Autor:
Evans, Ieuan Edward Shepherd1,2 (AUTHOR) ieuan.evans@health.qld.gov.au, Wood, Michelle1 (AUTHOR), Moore, Vanessa1 (AUTHOR), Reid, David William1,2,3 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Oct2024, Vol. 13 Issue 20, p6210. 9p.
Autor:
Luan, Meiwei1 (AUTHOR) meiweiluan@163.com, Chen, Kaining2 (AUTHOR) chenkn_bioinfo@163.com, Zhao, Wenwen3 (AUTHOR) zhaowenwen369@126.com, Tang, Minqiang3 (AUTHOR) tangminqiang@hainanu.edu.cn, Wang, Lingxia3 (AUTHOR) wlxhnu2000@163.com, Liu, Shoubai3 (AUTHOR) hainanliushoubai@163.com, Zhu, Linan4 (AUTHOR) linan.zhu@wsu.edu, Xie, Shangqian3 (AUTHOR) sqianxie@hainanu.edu.cn
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10400. 21p.
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
Autor:
Cătană, Cristina Sorina1 (AUTHOR) ccatana@umfcluj.ro, Marta, Monica Mihaela2 (AUTHOR) mmarta@umfcluj.ro, Văleanu, Mădălina3 (AUTHOR) mvaleanu@umfcluj.ro, Dican, Lucia1,4 (AUTHOR) lucia.dican@umfcluj.ro, Crișan, Cătălina Angela5 (AUTHOR) ccrisan@umfcluj.ro
Publikováno v:
International Journal of Molecular Sciences. Aug2024, Vol. 25 Issue 15, p8544. 14p.
Autor:
Sadler, J. E., Ginsburg, D., Abe, T., Anvret, M., Batlle, J., Bernardi, Francesco, Bonthron, D., Bowen, D., Eikenboom, J. C. J., Ewenstein, B., Falk, G., Gralnick, H., Inaba, H., Inbal, A., Lillicrap, D., Mancuso, D., Mazurier, C., Meyer, D., Michiels, J.
Publikováno v:
Thrombosis and Haemostasis. 69:185-191
SummaryNucleotide sequence polymorphisms in the von Willebrand factor (vWF) gene are useful for genetic studies in von Willebrand disease (vWD). This database describes 33 known vWF polymorphisms distributed throughout the vWF gene. DNA sequence info
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dbbbe5f48c9f7e17ff4e74151584a8c
https://doi.org/10.1055/s-0038-1651577
https://doi.org/10.1055/s-0038-1651577
Autor:
Steen-Johnsen J, Martony A, Kiil R, Hansteen Il, Karen Helene Ørstavik, Suzanne B. Cassidy, Anvret M, Tangsrud Se, Niels Tommerup, Karen Brøndum-Nielsen
Publikováno v:
American Journal of Medical Genetics. 44:534-538
We report on a 12-year-old boy and his 7-year-old sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond-shaped eyes, triangular mouth, hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c9b031cfbe0d10fc5379f164a9def8
https://doi.org/10.1002/ajmg.1320440431
https://doi.org/10.1002/ajmg.1320440431
Publikováno v:
Human Genetics; Jun1997, Vol. 100 Issue 1, p63-66, 4p