Showing results (1-10 of 8) with videos related to
Sort By:
Pageof 1
Journal of Inherited Metabolic Disease|January 12, 2010
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutationJytte Bieber Nielsen, Karin E Nielsen, Flemming GüttlerHuman Mutation|February 16, 2005
Large genomic rearrangements in MECP2Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 19, 2011
DXA measurements in Rett syndrome reveal small bones with low bone massGitte Roende, Kirstine Ravn, Kathrine Fuglsang, et al.Pediatric Research|December 24, 2010
Patients with Rett syndrome sustain low-energy fracturesGitte Roende, Kirstine Ravn, Kathrine Fuglsang, et al.American Journal of Medical Genetics. Part A|February 4, 2005
Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of casesMerete Bugge, Celia deLozier-Blanchet, Mads Bak, et al.Human Mutation|January 16, 2007
Low proportion of whole exon deletions causing phenylketonuria in Denmark and GermanyLisbeth Birk Møller, Anders O H Nygren, Patrick Scott, et al.European Journal of Human Genetics : EJHG|July 15, 2005
Early onset seizures and Rett-like features associated with mutations in CDKL5Julie C Evans, Hayley L Archer, James P Colley, et al.Neuropediatrics|March 21, 2012
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 casesGiorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, et al.Pageof 1