Résultats de la recherche

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Leucodermies chez l'enfant : revue de la litterature. [Leucoderma in children: Review of the literature]
Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies
Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

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