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Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2011/volume_48
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2011/volume_48/issue_12/m/print http://hub.abes.fr/bmj/periodical/jmg/2011/volume_48/issue_12/m/web
Date Copyrighted	2011
Rights	© 2011, 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	12
Access Rights	open-access
is Is Part Of of	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability New clinical genetics—2nd edition Fetal akinesia: review of the genetics of the neuromuscular causes Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population

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