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European Journal of Human Genetics : EJHG|September 22, 2011
Involvement of surfactant protein D in emphysema revealed by genetic association studyTakeo Ishii, Koichi Hagiwara, Koichiro Kamio, et al.
European Journal of Human Genetics : EJHG|December 8, 2011
Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletonsJonas Mengel-From, Mikael Thinggaard, Lene Christiansen, et al.
European Journal of Human Genetics : EJHG|December 8, 2011
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegenerationTyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, et al.
European Journal of Human Genetics : EJHG|October 6, 2011
Genome-wide association study of coronary artery disease in the JapaneseFumihiko Takeuchi, Mitsuhiro Yokota, Ken Yamamoto, et al.
European Journal of Human Genetics : EJHG|March 16, 2012
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newbornJanine Reunert, Rüdiger Wentzell, Michael Walter, et al.
European Journal of Human Genetics : EJHG|March 8, 2012
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutationCarola Hedberg, Atle Melberg, Angelika Kuhl, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
The phenotype associated with a large deletion on MECP2Ami Bebbington, Jenny Downs, Alan Percy, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar Mansour, Marielle Swinkels, Paulien A Terhal, et al.
European Journal of Human Genetics : EJHG|April 19, 2012
Quantifying harmful mutations in human populationsSankar Subramanian
European Journal of Human Genetics : EJHG|June 23, 2011
The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigreeZhongqiu Lu, Hong Chen, Yanzi Meng, et al.
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