Publications by authors named "Mathieu Boimard"

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A family with Wagner syndrome with uveitis and a new versican mutation.
Pierre-Raphaël Rothschild, Antoine P Brézin, Brigitte Nedelec, Cyril Burin des Roziers, Tiffany Ghiotti, Mathieu Boimard

Mol Vis· March 2014

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Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Aurélie Vasson, Céline Leroux, Lucie Orhant, Mathieu Boimard, Aurélie Toussaint

Eur J Hum Genet· September 2013

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Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.
Sophie Valleix, Julian D Gillmore, Frank Bridoux, Palma P Mangione, Ahmet Dogan, Mathieu Boimard

N Engl J Med· June 2012

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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.
Florence Niel-Butschi, Bernadette Kantelip, Justyna Iwaszkiewicz, Vincent Zoete, Mathieu Boimard

Mol Vis· September 2011

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