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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.
Orphanet J Rare Dis. 2011.
PMID: 21569298
Free PMC article.
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S.
Jonard L, et al. Among authors: thuillier obstoy mf.
Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi: 10.1016/j.ijporl.2010.06.002.
Int J Pediatr Otorhinolaryngol. 2010.
PMID: 20621367
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