Delphine Fauvert

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Étienne Mornet, Alice Yvard, A. Taillandier et al. · Annals of Human Genetics · 2011 · 232 citations

Medicine, Genetics, Molecular Genetics +17

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun‐Heath, Anne-Sophie Lia-Baldini et al. · BMC Medical Genetics · 2009 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 122 citations

Medicine, Genetics, Pediatrics +17

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

Mariem Ben Khelifa, Farah Ghieh, Radia Boudjenah et al. · Human Reproduction · 2018 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Characterization of Missense Mutations and Large Deletions in the <i>ALPL</i> Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments

Marc Spentchian, Isabelle Brun‐Heath, A. Taillandier et al. · Genetic Testing · 2006 · 24 citations

Medicine, Genetics, Molecular Genetics +17