Isabelle Bouchardy

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

Alexandre Dayer, Armand Bottani, Isabelle Bouchardy et al. · Brain and Development · 2006 · 49 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Cystic Fibrosis Transmembrane Conductance Regulator Does Not Affect Neutrophil Migration across Cystic Fibrosis Airway Epithelial Monolayers

Lara Pizurki, Michael A. Morris, Marc Chanson et al. · American Journal Of Pathology · 2000 · 48 citations · Full text

Inflammation, Molecular Physiology, Granulocyte +10

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

Marguerite Neerman‐Arbez, Dũng Chí Vũ, Bassam Abu‐Libdeh et al. · Blood · 2003 · 48 citations

Elicited repetitive daily blindness

D. Fort, A. Safran, Fabienne Picard et al. · Neurology · 2004 · 26 citations

Combined factor V – factor VIII deficiency (F5F8D): Compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient

Roula Farah, Philippe de Moerloose, Isabelle Bouchardy et al. · Thrombosis and Haemostasis · 2006 · 11 citations

Mendelian Disorder, Genetic Disorder, Genetics +7