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The Journal of Molecular Diagnostics : JMD|July 6, 2011
Three new loci for determining x chromosome inactivation patternsBirgitte Bertelsen, Zeynep Tümer, Kirstine Ravn
American Journal of Medical Genetics. Part A|September 24, 2015
Hearing impairment and renal failure associated with RMND1 mutationsKirstine Ravn, Mette Neland, Flemming Wibrand, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 1, 2015
Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kirstine Ravn, et al.
American Journal of Medical Genetics. Part A|July 30, 2013
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation familyBitten Schönewolf-Greulich, Kirstine Ravn, Bente Hamborg-Petersen, et al.
Ugeskrift for Laeger|August 5, 2015
[Clinical molecular genetics diagnostics of Rett syndrome in Denmark]Bitten Schönewolf-Greulich, Morten Dunø, Kirstine Ravn, et al.
BMC Medical Genetics|October 12, 2018
De novo mutations in SCN1A are associated with classic Rett syndrome: a case reportMari Wold Henriksen, Kirstine Ravn, Benedicte Paus, et al.
Human Mutation|February 16, 2005
Large genomic rearrangements in MECP2Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, et al.
JIMD Reports|June 26, 2015
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 MutationJabin Rafiq, Morten Duno, Elsebet Østergaard, et al.
Gene|July 13, 2015
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndromeMartine Isabel Boyle, Cathrine Jespersgaard, Lusine Nazaryan, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutationsKirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.
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