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
Amelogenesis Imperfecta : 1 Family, 2 Phenotypes, and 2 Mutated Genes
Syndrome de Bardet-Biedl: cils et obésité - de la génétique aux approches intégratives. [Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome
Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort
Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome
Alstrom Syndrome: Mutation Spectrum of ALMS1
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort
A possible cranio-oro-facial phenotype in Cockayne syndrome

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