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2019 | 3 |
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RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprinting.
BMC Biol. 2019 Jun 24;17(1):50. doi: 10.1186/s12915-019-0674-0.
BMC Biol. 2019.
PMID: 31234833
Free PMC article.
Skewed X-inactivation is common in the general female population.
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium.
Shvetsova E, et al.
Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14.
Eur J Hum Genet. 2019.
PMID: 30552425
Free PMC article.
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.
Kim A, et al.
Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.
Brain. 2019.
PMID: 30508070
Free article.
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