Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca Margraf"'
Autor:
Alice Frigerio, Karol Wright, Whitney Wooderchak-Donahue, Oon T Tan, Rebecca Margraf, David A Stevenson, J Fredrik Grimmer, Pinar Bayrak-Toydemir
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0133158 (2015)
Port-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular developme
Externí odkaz:
https://doaj.org/article/9d44737acfd34b0d9148837db4481c6c
Autor:
Whitney L, Wooderchak-Donahue, Jamie, McDonald, Andrew, Farrell, Gulsen, Akay, Matt, Velinder, Peter, Johnson, Chad, VanSant-Webb, Rebecca, Margraf, Eric, Briggs, Kevin J, Whitehead, Jennifer, Thomson, Angela E, Lin, Reed E, Pyeritz, Gabor, Marth, Pinar, Bayrak-Toydemir
Publikováno v:
Journal of medical genetics. 55(12)
Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genesDNA from 35 individuals with clinical findings of HHT and 2 healthy controls from 13 families underwent whole genome sequencing. Addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f20f1b19f57a50f9ab9b1a0e7fb81e3
https://pubmed.ncbi.nlm.nih.gov/30244195
https://pubmed.ncbi.nlm.nih.gov/30244195
Publikováno v:
American Journal of Clinical Pathology; Mar2007, Vol. 127 Issue 3, p1-8, 8p