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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.
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: boimard m.
Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013.
Mol Vis. 2013.
PMID: 24174867
Free PMC article.
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Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.
Niel-Butschi F, Kantelip B, Iwaszkiewicz J, Zoete V, Boimard M, Delpech M, Bourges JL, Renard G, D'Hermies F, Pisella PJ, Hamel C, Delbosc B, Valleix S.
Niel-Butschi F, et al. Among authors: boimard m.
Mol Vis. 2011;17:1192-202. Epub 2011 May 5.
Mol Vis. 2011.
PMID: 21617751
Free PMC article.
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Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
Valleix S, Gillmore JD, Bridoux F, Mangione PP, Dogan A, Nedelec B, Boimard M, Touchard G, Goujon JM, Lacombe C, Lozeron P, Adams D, Lacroix C, Maisonobe T, Planté-Bordeneuve V, Vrana JA, Theis JD, Giorgetti S, Porcari R, Ricagno S, Bolognesi M, Stoppini M, Delpech M, Pepys MB, Hawkins PN, Bellotti V.
Valleix S, et al. Among authors: boimard m.
N Engl J Med. 2012 Jun 14;366(24):2276-83. doi: 10.1056/NEJMoa1201356.
N Engl J Med. 2012.
PMID: 22693999
Free article.
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