Publications by authors named "Isabelle Bouchardy"

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[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
Ana de Prada Merino, Florence Niel Bütschi, Isabelle Bouchardy, Jacques S Beckmann, Michael A Morris

J Cyst Fibros· December 2010

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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
Alexandre G Dayer, Armand Bottani, Isabelle Bouchardy, Joel Fluss, Stylianos E Antonarakis

Brain Dev· January 2007

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Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient.
Roula A Farah, Philippe de Moerloose, Isabelle Bouchardy, Michael A Morris, Wadad Barakat

Thromb Haemost· May 2006

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No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome.
Armand Bottani, Bruno Pardo, Isabelle Bouchardy, Jacqueline Schoumans, Annick Toutain

Am J Med Genet A· April 2006

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Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family.
Marguerite Neerman-Arbez, Dung Vu, Bassam Abu-Libdeh, Isabelle Bouchardy, Michael A Morris

Blood· May 2003

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