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New surfactant protein C gene mutations associated with diffuse lung diseaseJournal of Medical Genetics, 2009, 46 (7), pp.490. ⟨10.1136/jmg.2009.066829⟩
Journal articles
hal-00552694v1
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
Journal articles
pasteur-00663885v1
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PW03-033 - SLC29A3 mutation: a new autoinflammatory conditionPediatric Rheumatology, 2013, 11 (Suppl 1), pp.A259
Journal articles
inserm-00881688v1
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.European Journal of Human Genetics, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
Journal articles
inserm-00102388v1
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