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European Journal of Human Genetics : EJHG|February 23, 2012
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotypeMasayo Kagami, Fumiko Kato, Keiko Matsubara, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
Publics and biobanks: Pan-European diversity and the challenge of responsible innovationGeorge Gaskell, Herbert Gottweis, Johannes Starkbaum, et al.
European Journal of Human Genetics : EJHG|May 26, 2016
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)Sureni V Mullegama, Sarah H Elsea
European Journal of Human Genetics : EJHG|July 14, 2016
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndromeIlse M van der Werf, Karin Buiting, Christina Czeschik, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Genotype and brain pathology phenotype in children with tuberous sclerosis complexIris E Overwater, Rob Swenker, Emma L van der Ende, et al.
European Journal of Human Genetics : EJHG|August 31, 2017
Propionic acidemia as a cause of adult-onset dilated cardiomyopathyMoniek Riemersma, Mark R Hazebroek, Appolonia T J M Helderman-van den Enden, et al.
European Journal of Human Genetics : EJHG|August 3, 2017
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemiaBassam Abu-Libdeh, Liza Douiev, Sarah Amro, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing eventsMatthew A M Todd, Michael S Huh, David J Picketts
European Journal of Human Genetics : EJHG|May 12, 2016
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseasesMirjam Plantinga, Erwin Birnie, Kristin M Abbott, et al.
European Journal of Human Genetics : EJHG|April 21, 2016
Somatically acquired structural genetic differences: a longitudinal study of elderly Danish twinsKristina Magaard Koldby, Marianne Nygaard, Kaare Christensen, et al.
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