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http://hub.abes.fr/bmj/periodical/jmg/2009/volume_46
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2009
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© Furniss et al 2009
© Hüffmeier et al 2009
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11
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis
A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis
Encephalocraniocutaneous lipomatosis
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing
The unfolding clinical spectrum of POLG mutations
Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting
Deregulation of EIF4E: a novel mechanism for autism
An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery
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