Boulez, Florence, 1985-....
Florence Roucher-Boulez researcher
VIAF ID: 288533674 (Personal)
Permalink: http://viaf.org/viaf/288533674
Preferred Forms
4xx's: Alternate Name Forms (5)
Works
Title | Sources |
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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene | |
Age- and Sex-Specific TSH Upper-Limit Reference Intervals in the General French Population: There Is a Need to Adjust Our Actual Practices | |
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA. | |
Étiologies moléculaires des insuffisances surrénales primaires congénitales : développements statistiques pour la validation du séquençage parallèle massif | |
Etude moléculaire des déficits en aldostérone synthase ou CYP11B2 : à propos de 38 patients, 34 familles | |
Études fonctionnelles de nouvelles mutations du gène CYPA11A1 | |
Evolution of steroids during pregnancy: Maternal, placental and fetal synthesis. | |
Genetic of gonadal determination. | |
Letter to the Editor: "Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency" | |
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression | |
News about the genetics of congenital primary adrenal insufficiency. | |
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. | |
P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation. | |
PKA signaling drives reticularis differentiation and sexually dimorphic adrenal cortex renewal. | |
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis. | |
Statistical method to compare massive parallel sequencing pipelines | |
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report. | |
Triple-A syndrome: a wide spectrum of adrenal dysfunction. | |
Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome |