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Volume 21, Issue 24, 15 December 2012
Articles
Expression of SMARCB1 (INI1) mutations in familial schwannomatosis
Miriam J. Smith and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5239–5245, https://doi.org/10.1093/hmg/dds370
Chromosome-specific accumulation of aneuploidy in the aging mouse brain
Francesca Faggioli and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5246–5253, https://doi.org/10.1093/hmg/dds375
NUB1 modulation of GSK3β reduces tau aggregation
Emma Richet and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5254–5267, https://doi.org/10.1093/hmg/dds376
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Michael S. Nahorski and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5268–5279, https://doi.org/10.1093/hmg/dds378
Selective histone deacetylase (HDAC) inhibition imparts beneficial effects in Huntington's disease mice: implications for the ubiquitin–proteasomal and autophagy systems
Haiqun Jia and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5280–5293, https://doi.org/10.1093/hmg/dds379
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
Dario Brunetti and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5294–5305, https://doi.org/10.1093/hmg/dds380
Kinetochore KMN network gene CASC5 mutated in primary microcephaly
Anne Genin and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5306–5317, https://doi.org/10.1093/hmg/dds386
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function
Daniela Tavian and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5318–5328, https://doi.org/10.1093/hmg/dds388
ASSOCIATION STUDIES ARTICLES
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
Daniel I. Chasman and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5329–5343, https://doi.org/10.1093/hmg/dds369
Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5–CHRNA3–CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight
Jessica Tyrrell and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5344–5358, https://doi.org/10.1093/hmg/dds372
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
EPICURE Consortium and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5359–5372, https://doi.org/10.1093/hmg/dds373
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11
Afshan Siddiq and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5373–5384, https://doi.org/10.1093/hmg/dds381
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans
Massimo Mangino and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5385–5394, https://doi.org/10.1093/hmg/dds382
Corrigendum
In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death
Marijana Samardzija and others
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Page 5395, https://doi.org/10.1093/hmg/dds404
FRONT-MATTER/BACK-MATTER
Contents Page
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Page NP, https://doi.org/10.1093/hmg/dds454
Cover Page
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Page NP, https://doi.org/10.1093/hmg/dds457
Editorial Board
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Page NP, https://doi.org/10.1093/hmg/dds460
Subscription Page
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Page NP, https://doi.org/10.1093/hmg/dds463
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