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Human Molecular Genetics|April 9, 2013
Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expressionMotoi Kanagawa, Chih-Chieh Yu, Chiyomi Ito, et al.Human Molecular Genetics|April 9, 2013
Evolutionarily conserved long intergenic non-coding RNAs in the eyeDebarshi Mustafi, Brian M Kevany, Xiaodong Bai, et al.Human Molecular Genetics|April 25, 2013
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysisShuang-Xia Zhao, Li-Qiong Xue, Wei Liu, et al.Human Molecular Genetics|April 26, 2013
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.Human Molecular Genetics|March 29, 2013
Global increases in both common and rare copy number load associated with autismSanthosh Girirajan, Rebecca L Johnson, Flora Tassone, et al.Human Molecular Genetics|March 29, 2013
A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysmGregory T Jones, Matthew J Bown, Solveig Gretarsdottir, et al.Human Molecular Genetics|June 6, 2013
Cardiac α-actin over-expression therapy in dominant ACTA1 diseaseGianina Ravenscroft, Elyshia McNamara, Lisa M Griffiths, et al.Human Molecular Genetics|June 6, 2013
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse modelsRocky G Gogliotti, Herminio Cardona, Jasbir Singh, et al.Human Molecular Genetics|August 1, 2013
Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersJonathan Janssens, Christine Van BroeckhovenHuman Molecular Genetics|August 1, 2013
Patched1 is required in neural crest cells for the prevention of orofacial cleftsVicki Metzis, Andrew D Courtney, Markus C Kerr, et al.Pageof 1,196