Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jens M Hertz"'
Autor:
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glauc
Externí odkaz:
https://doaj.org/article/15c887a1f0b749fc8219f95900909adc
Autor:
Dorte, Haubek, Hans, Gjørup, Lillian G, Jensen, Inger, Juncker, Mette, Nyegaard, Anders D, Børglum, Sven, Poulsen, Jens M, Hertz
Publikováno v:
International journal of paediatric dentistry. 21(6)
BACKGROUND. Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) is a disease with severe dental manifestations. OBJECTIVES. The aims were by means of a genome-wide linkage scan to search for the gene underlying the ADHCAI phenotype in a