Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Margot Boeve"'
Autor:
Nicolien Hanemaaijer, Trijnie Dijkhuizen, Margot Boeve, Maaike Haadsma, Klaas Kok, Maartje Boon, Birgit Sikkema-Raddatz, Roel Hordijk, Conny M. A. van Ravenswaaij-Arts
Publikováno v:
European journal of medical genetics. 52(2-3):116-119
We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49511733945c0be93684af0c66fed6c5
https://hdl.handle.net/11370/7813690e-a320-4821-a00a-66bc5a2f1ba1
https://hdl.handle.net/11370/7813690e-a320-4821-a00a-66bc5a2f1ba1
Publikováno v:
The Pediatric Infectious Disease Journal. 17:1105-1113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d347de3c13d3b76fd1009f1dfd5260f
https://doi.org/10.1097/00006454-199812000-00002
https://doi.org/10.1097/00006454-199812000-00002