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A Small Terminal Deletion 11q in a Boy Without Jacobsen Syndrome: Narrowing the Critical Region for the 11q Jacobsen Syndrome Phenotype
Evers, C. et al. American Journal of Medical Genetics Part a 158A(3), 680-4, 2012 PubMed
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
Schwartzentruber, J. et al. Nature 482(7384), NPG, 2012 PubMed
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Audo, I. et al. American Journal of Human Genetics 90(2), 321-30, 2012 PubMed
Enhanced Functional Recovery in MRL/MpJ Mice after Spinal Cord Dorsal Hemisection
Thuret, S. et al. Plos One 7(2), NPG, 2012 PubMed
Retinoic Acid-Dependent Signaling Pathways and Lineage Events in the Developing Mouse Spinal Cord
Paschaki, M. et al. Plos One 7(3), NPG, 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
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