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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2012/volume_49
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2012/volume_49/issue_4/m/web http://hub.abes.fr/bmj/periodical/jmg/2012/volume_49/issue_4/m/print
Date Copyrighted	2012
Rights	© 2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
issue	4
is Is Part Of of	Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing An SNX10 mutation causes malignant osteopetrosis of infancy Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes Keratinocytic epidermal nevi are associated with mosaic RAS mutations Identification of YAP1 as a novel susceptibility gene for polycystic ovary syndrome Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair Life expectancy in hereditary cancer predisposing diseases: an observational study NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene The Human Variome Project Beijing meeting Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

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