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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23.
Eur J Hum Genet. 2013.
PMID: 23340513
Free PMC article.
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.
Burin-des-Roziers C, Rothschild PR, Layet V, Chen JM, Ghiotti T, Leroux C, Cremers FP, Brézin AP, Valleix S.
Burin-des-Roziers C, et al. Among authors: ghiotti t.
Hum Mutat. 2017 Jan;38(1):43-47. doi: 10.1002/humu.23124. Epub 2016 Nov 23.
Hum Mutat. 2017.
PMID: 27667122
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A family with Wagner syndrome with uveitis and a new versican mutation.
Rothschild PR, Brézin AP, Nedelec B, Burin des Roziers C, Ghiotti T, Orhant L, Boimard M, Valleix S.
Rothschild PR, et al. Among authors: ghiotti t.
Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013.
Mol Vis. 2013.
PMID: 24174867
Free PMC article.
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De novo splice mutation in the versican gene in a family with Wagner syndrome.
Rothschild PR, Audo I, Nedelec B, Ghiotti T, Brézin AP, Monin C, Valleix S.
Rothschild PR, et al. Among authors: ghiotti t.
JAMA Ophthalmol. 2013 Jun;131(6):805-7. doi: 10.1001/jamaophthalmol.2013.681.
JAMA Ophthalmol. 2013.
PMID: 23571384
No abstract available.
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