Brigitte Simon‐Bouy
Centre Hospitalier de Versailles(FR)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Alkaline Phosphatase Research Studies, Prenatal Screening and Diagnostics, Neonatal Respiratory Health Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population(2011)230 cited
- → Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome(2005)136 cited
- → The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening(2009)126 cited
- → Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia(1998)125 cited
- → A molecular approach to dominance in hypophosphatasia(2001)106 cited
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