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Your search keyword '"Valérie Drouin-Garraud"' showing total 6 results

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6 results on '"Valérie Drouin-Garraud"'

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1. TTC12 loss-of-function mutations cause primary Ciliary Dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella

2. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

3. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

4. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

5. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

6. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

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