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(1 - 4 of 4)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Joshi, R.S.; Garg, P.; Zaitlen, N.; Lappalainen, T.; Watson, C.T.; Azam, N.; ... ; Sharp, A.J. 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Article / Letter to editor
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Dunnen, J.T. den; Dalgleish, R.; Maglott, D.R.; Hart, R.K.; Greenblatt, M.S.; McGowan-Jordan, J.; ... ; Human Genome Org HUGO 2016
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
Article / Letter to editor
metadata only
Transcriptome and genome sequencing uncovers functional variation in humans
Lappalainen, T.; Sammeth, M.; Friedlander, M.R.; Hoen, P.A.C. 't; Monlong, J.; Rivas, M.A.; ... ; Geuvadis Consortium 2013
Transcriptome and genome sequencing uncovers functional variation in humans
Article / Letter to editor
metadata only
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Bena, F.; Bruno, D.L.; Eriksson, M.; Ravenswaaij-Arts, C. van; Stark, Z.; Dijkhuizen, T.; ... ; Schoumans, J. 2013
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Article / Letter to editor
metadata only