Zobrazeno 1 - 10
of 36
pro vyhledávání: '"de France, H. F."'
Autor:
Tuerlings, J H A M, de France, H F, Hamers, A, Hordijk, R, Van Hemel, J O, Hansson, K, Hoovers, J M N, Madan, K, Van Der Blij-Philipsen, M, Gerssen-Schoorl, K B J, Kremer, J A M, Smeets, D F C M
Publikováno v:
European Journal of Human Genetics. May98, Vol. 6 Issue 3, p194. 7p.
Autor:
Verbraak, F. D., Pogány, K., Pilon, J. W., Mooy, C. M., de France, H. F., Hennekam, R. C., Bleeker-Wagemakers, E. M.
Publikováno v:
Ophthalmic paediatrics and genetics, 13(3), 165-170. Aeolus Press
A case of partial duplication of chromosome 1 (1q41-qter) and partial deletion of chromosome 9 (9p24-pter) with infantile congenital glaucoma is reported. The histopathology of the eyes is described. The clinical findings ascribed to trisomy 1q and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e0e7caf3a49d00cf764c867582aa46d2
https://pure.amc.nl/en/publications/congenital-glaucoma-in-a-child-with-partial-1q-duplication-and-9p-deletion(976969a5-4cc0-4980-999c-08f6b7b677d8).html
https://pure.amc.nl/en/publications/congenital-glaucoma-in-a-child-with-partial-1q-duplication-and-9p-deletion(976969a5-4cc0-4980-999c-08f6b7b677d8).html
Autor:
Verbraak, Frank D., Pogány, Katalin, Pilon, Jan-Willem, Mooy, C. m., De France, H. F., Hennekam, Raoul C.m., Bleeker-Wagemakers, E. M.
Publikováno v:
Ophthalmic Paediatrics & Genetics; 1992, Vol. 13 Issue 3, p165-170, 6p
Autor:
Klep-de Pater, J M, Bijlsma, J B, Bleeker-Wagemakers, E M, de France, H F, de Vries-Ekkers, C M
Publikováno v:
Journal of Medical Genetics; Apr1979, Vol. 16 Issue 2, p151-154, 4p
Publikováno v:
Prenatal Diagnosis; May1996, Vol. 16 Issue 5, p437-442, 6p
Autor:
Verbraak, Frank, Pogány, Katalin, Pilon, Jan-Willem, Mooy, C. m., De France, H. F., Hennekam, Raoul, Bleeker-Wagemakers, E. M.
Publikováno v:
Ophthalmic Genetics; 1992, Vol. 13 Issue: 3 p165-170, 6p
Publikováno v:
Journal of Medical Genetics; Jun1985, Vol. 22 Issue 3, p224-226, 3p
Publikováno v:
Human Reproduction; Apr1997, Vol. 12 Issue 4, p752-754, 3p
Publikováno v:
Journal of Medical Genetics; May1989, Vol. 26 Issue 5, p344-345, 2p
Autor:
Zwamborn-Hanssen AM; Clinical Genetics Center Limburg, Maastricht, The Netherlands., Bijlsma JB, Hennekam EF, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CE, Duran M, van Gennip AH, van Mens JT, Pearson PL, Mantel G, Verhage RE, Geraedts JP
Publikováno v:
American journal of medical genetics [Am J Med Genet] 1997 Jun 27; Vol. 70 (4), pp. 444-7.