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Unique author identifier; what are we waiting for?
Polychronakos, C. Journal of Medical Genetics 49(2), 75, 2012 PubMed
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Chiesa, N. et al. Human Molecular Genetics 21(1), 10-25, 2012 PubMed
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes
Li, W. et al. Human Molecular Genetics 21(1), 32-45, 2012 PubMed
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential
Noack, R. et al. Human Molecular Genetics 21(1), 150-62, 2012 PubMed
Transcriptional responses to loss or gain of function of the leucine-rich repeat kinase 2 (LRRK2) gene uncover biological processes modulated by LRRK2 activity
Nikonova, E. V. et al. Human Molecular Genetics 21(1), 163-74, 2012 PubMed
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Selmer, K. K. et al. European Journal of Human Genetics 20(1), 58-63, 2012 PubMed
Evidence of linkage to chromosomes 10p15.3-p15.1, 14q24.3-q31.1 and 9q33.3-q34.3 in non-syndromic colorectal cancer families
Saunders, I. W. et al. European Journal of Human Genetics 20(1), 91-6, 2012 PubMed
Brazilian urban population genetic structure reveals a high degree of admixture
Giolo, S. R. et al. European Journal of Human Genetics 20(1), 111-6, 2012 PubMed
Two glycosyltransferases involved in anthocyanin modification delineated by transcriptome independent component analysis in Arabidopsis thaliana
Yonekura-Sakakibara, K. et al. Plant Journal 69(1), 154-67, 2012 PubMed
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