Laboratoire de Génétique Médicale - LGM - UMRS1112

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Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?
Single-cell profiling of epigenetic modifiers identifies PRDM14 as an inducer of cell fate in the mammalian embryo
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
VaRank: a simple and powerful tool for ranking genetic variants
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

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