Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

Por Frederiksen, Anja Lisbeth, Duno, Morten, Johnsen, Iben B. G., Nielsen, Morten Frost, Krøigård, Anne Bruun
Publicado no Clin Case Rep (2016)

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994–2014: A Nationwide Study

Por Mathiesen, Jes Sloth, Kroustrup, Jens Peter, Vestergaard, Peter, Stochholm, Kirstine, Poulsen, Per Løgstrup, Rasmussen, Åse Krogh, Feldt-Rasmussen, Ulla, Gaustadnes, Mette, Ørntoft, Torben Falck, Hansen, Thomas van Overeem, Nielsen, Finn Cilius, Brixen, Kim, Godballe, Christian, Frederiksen, Anja Lisbeth
Publicado no Thyroid (2017)