Zobrazeno 1 - 10
of 253
pro vyhledávání: '"De Pater, J."'
Autor:
Dunne, S.C., Werner, C., Wiesmann, A., Van Emmerik, T.H.M., De Pater, J., Rommen, B., Van de Giesen, N.C.
Publikováno v:
Geophysical Research Abstracts, 16, 2014
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::edfa3abc7e17931ba63d1240ef44536e
http://resolver.tudelft.nl/uuid:6d8386d6-296d-4103-a557-a4f13623eabb
http://resolver.tudelft.nl/uuid:6d8386d6-296d-4103-a557-a4f13623eabb
Publikováno v:
Genetic counseling (Geneva, Switzerland), 11(3), 241-247. Editions Medecine et Hygiene
Precarious acrocentric short arm in prenatal diagnosis: no chromosome 14 polymorphism, but trisomy 17p: we report on a girl with multiple congenital abnormalities and a prenatally diagnosed 46,XX.14p+ de novo karyotype. Fluorescence in situ hybridiza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c79300a3e5aba975e5ea070df75fcba9
https://pure.amc.nl/en/publications/precarious-acrocentric-short-arm-in-prenatal-diagnosis-no-chromosome-14-polymorphism-but-trisomy-17p(c555adb5-a0c8-4267-b29d-ec94b065a2b5).html
https://pure.amc.nl/en/publications/precarious-acrocentric-short-arm-in-prenatal-diagnosis-no-chromosome-14-polymorphism-but-trisomy-17p(c555adb5-a0c8-4267-b29d-ec94b065a2b5).html
Publikováno v:
Genetic counseling (Geneva, Switzerland), 3(2), 83-89. Editions Medecine et Hygiene
A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::925674fe6fa42471e38c59cd22e7efc4
https://pure.amc.nl/en/publications/partial-monosomy-8p-and-partial-trisomy-8p-with-moderate-mental-retardation(74d96bf4-df33-46a7-bb46-e21a61b45c53).html
https://pure.amc.nl/en/publications/partial-monosomy-8p-and-partial-trisomy-8p-with-moderate-mental-retardation(74d96bf4-df33-46a7-bb46-e21a61b45c53).html
Publikováno v:
Genetic counseling (Geneva, Switzerland), 2(2), 83-91. Editions Medecine et Hygiene
A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ff5e4da19a1331f2c60a040ba8980a2a
https://pure.amc.nl/en/publications/a-case-with-laryngeal-atresia-and-partial-trisomy-9-due-to-maternal-916-translocation(510cdeea-46f3-4c7a-943c-75bce73abc3d).html
https://pure.amc.nl/en/publications/a-case-with-laryngeal-atresia-and-partial-trisomy-9-due-to-maternal-916-translocation(510cdeea-46f3-4c7a-943c-75bce73abc3d).html
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
Autor:
Hochstenbach, R., Meijer, J., van de Brug, J., Vossebeld-Hoff, I., Jansen, R., van der Luijt, R. B., Sinke, R. J., Page-Christiaens, G. C. M. L., Ploos van Amstel, J.-K., de Pater, J. M.
Publikováno v:
Prenatal Diagnosis; Nov2005, Vol. 25 Issue 11, p1032-1039, 8p
Autor:
de Pater, J. M., Kroes, H. Y., Verschuren, M., van Oppen, A. C. C., Albrechts, J. C. M., Engelen, J. J. M.
Publikováno v:
Prenatal Diagnosis; Feb2005, Vol. 25 Issue 2, p151-155, 5p
Publikováno v:
Obstetrics & Gynecology; 2000 Aug, Vol. 96 Issue 2, p281-286, 6p
Autor:
Heriseanu, Carmen1,2 (AUTHOR) mariana-carmen.iliescu@drd.umfcd.ro, Bizubac, Mihaela1,3 (AUTHOR) ana-mihaela.bizubac@umfcd.ro, Draghia, Loredana1 (AUTHOR) catalin.cirstoveanu@umfcd.ro, Marcu, Veronica4 (AUTHOR) veronicamarcu@yahoo.com, Gheorghe, Dan5 (AUTHOR) cristian.gheorghe@umfcd.ro, Cirstoveanu, Catalin1,3 (AUTHOR)
Publikováno v:
Diagnostics (2075-4418). Dec2023, Vol. 13 Issue 24, p3658. 11p.