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Journal of Medical Genetics|May 14, 2013
An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves' diseaseXun Chu, Min Shen, Fang Xie, et al.Journal of Medical Genetics|May 21, 2013
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndromeElisabetta Flex, Andrea Ciolfi, Viviana Caputo, et al.Journal of Medical Genetics|May 21, 2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephalyJosé-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, et al.Journal of Medical Genetics|May 21, 2013
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathiesNilgun Cetin, Burcu Balci-Hayta, Hulya Gundesli, et al.Journal of Medical Genetics|December 15, 2012
IL12B SNPs and copy number variation in IL23R gene associated with susceptibility to leprosyShafat Ali, Amit Kumar Srivastava, Rupali Chopra, et al.Journal of Medical Genetics|December 15, 2012
Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillanceSusanne E Korsse, Femme Harinck, Margot G F van Lier, et al.Journal of Medical Genetics|January 23, 2013
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and successSuzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, et al.Journal of Medical Genetics|January 26, 2013
Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fractureJoo-Yeon Hwang, Seung Hun Lee, Min Jin Go, et al.Journal of Medical Genetics|January 26, 2013
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosisVincent José Soler, Khanh-Nhat Tran-Viet, Stéphane D Galiacy, et al.Journal of Medical Genetics|March 1, 1990
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritanceS A Hawkins, N C Nevin, A E HardingPageof 649