Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Gabriel Ercoli"'
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 100:726-729
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and cra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4894acff0838e07ac6e8668fa99debf5
https://doi.org/10.1002/bdra.23270
https://doi.org/10.1002/bdra.23270
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 100(9)
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and cra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::94b9059d42293cfa8726891cbc33da2d
https://pubmed.ncbi.nlm.nih.gov/25045033
https://pubmed.ncbi.nlm.nih.gov/25045033
Autor:
Lucas Alterman, Gabriel Ercoli, Lina Maria Nunez, Daniel Eduardo Levy, Roxana Cerretini, Rita Valdez, Paola Jablonski, Graciela Mercado, Hugo Gass, Eduardo Pastene, Mariel Ormazabal
Publikováno v:
Journal of Clinical Oncology. 32:1539-1539
1539 Background: Specific founder mutations 187_188delAG; 5385_5386insC and A1708E in BRCA1 and 6174delT and IVS2+1G>A in BRCA2 have been reported in Jews of Israel and United States. Moderate pene...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a3f01c206ad4f334122dbacbf48682e
https://doi.org/10.1200/jco.2014.32.15_suppl.1539
https://doi.org/10.1200/jco.2014.32.15_suppl.1539