Concepedia
Statistics
Publications
3
Citations
178
H-Index
Active since
2012
Affiliations
Université de Bordeaux(Current)
Maladies Rares: Génétique et Métabolisme
Centre Hospitalier Universitaire de Clermont-Ferrand
Inserm
Hôpital Arnaud de Villeneuve
Julie Deforges is an author at Université de Bordeaux specializing in genetic disorders, medicine, and human genetics.
Publications per year
2012–2016
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations
Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
Sébastien Moutton, Patricia Fergelot, Sophie Naudion et al. · Journal of Human Genetics · 2016 · 30 citations
Medicine, Dermatology, Pediatrics +9
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
Patricia Fergelot, Isabelle Coupry, Caroline Rooryck et al. · European Journal of Medical Genetics · 2012 · 26 citations
Medicine, Anatomy, Neoplasia +2
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