Zobrazeno 1 - 3
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pro vyhledávání: '"Elisabeth M. Rosser"'
Autor:
Jane A. Hurst, William Reardon, Elisabeth M. Rosser, Ernie M.H.F. Bongers, Joris A. Veltman, Ad Geurts van Kessel, Didier Lacombe, Bert B.A. de Vries, Caroline J Law, David A. Koolen, M.A.R. Leisink, Conny M.A. van Ravenswaaij-Arts
Publikováno v:
European Journal of Human Genetics, 13, 1019-24
European Journal of Human Genetics, 13, 9, pp. 1019-24
European Journal of Human Genetics, 13, 9, pp. 1019-24
Contains fulltext : 48838.pdf (Publisher’s version ) (Closed access) The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia. In this study, the size and nature of 22q13 deletio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ba1c07750257d5a9c37a93fc1ed037
http://hdl.handle.net/2066/48838
http://hdl.handle.net/2066/48838
Publikováno v:
Journal of pediatric hematology/oncology. 26(1)
Fanconi anemia is a chromosomal instability syndrome associated with certain congenital abnormalities, defective hemopoiesis, and an increased risk of developing acute myeloid leukemia and some solid tumors. The diagnosis can be made at birth if cong
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b69f75138cde481c4043161680a17469
https://pubmed.ncbi.nlm.nih.gov/14707715
https://pubmed.ncbi.nlm.nih.gov/14707715
Autor:
Elisabeth M. Rosser, Marc Tischkowitz
Publikováno v:
European journal of cancer (Oxford, England : 1990). 40(16)
Over recent years significant molecular advances have led to a better understanding of the genetics of both syndromic and non-syndromic paediatric cancers. In addition many hereditary cancer predisposition syndromes are now recognised, some of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76cdc1206183c6be97b65c9038cd77b6
https://pubmed.ncbi.nlm.nih.gov/15519521
https://pubmed.ncbi.nlm.nih.gov/15519521