Karelle Bénistan

X‐chromosome inactivation in female patients with Fabry disease

Lucía Echevarría, Karelle Bénistan, Anne Toussaint et al. · Clinical Genetics · 2015 · 417 citations

Life Sciences, Genetics, Molecular Genetics +15

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

Dominique P. Germain, Frank Weidemann, Ademola K. Abiose et al. · Genetics in Medicine · 2013 · 92 citations · Full text

Medicine, Cardiology, Internal Medicine +8

Mutation spectrum in the ABCC6 gene and genotype–phenotype correlations in a French cohort with pseudoxanthoma elasticum

Anne Legrand, Laurence Cornez, Wafa Samkari et al. · Genetics in Medicine · 2017 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Pain in hypermobile Ehlers‐Danlos syndrome: New insights using new criteria

Karelle Bénistan, V. Martinez · American Journal of Medical Genetics Part A · 2019 · 52 citations

Medicine, Neurology, Pain Management +11

Topical Sodium Thiosulfate: A Treatment for Calcifications in Hyperphosphatemic Familial Tumoral Calcinosis?

Jérémy Jost, Claire Bahans, Marie Courbebaisse et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 46 citations · Full text

Medicine, Pathology, Calcium Homeostasis +13