Isabella Mammi

Methimazole embryopathy: Delineation of the phenotype

Maurizio Clementi, Elena Di Gianantonio, Elisabetta Pelo et al. · American Journal of Medical Genetics · 1999 · 204 citations

Medicine, Obstetrics, Pediatrics +17

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 166 citations · Full text

Life Sciences, Biochemistry, Developmental Biology +8

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Sara Benedetti, I. Menditto, Massimo Degano et al. · Neurology · 2007 · 131 citations

Medicine, Genetics, Molecular Genetics +13

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Neurofibromatosis type 1 growth charts

Massimo Clementi, Silvano Milani, Isabella Mammi et al. · American Journal of Medical Genetics · 1999 · 106 citations · Full text

Medicine, Human Development, Pediatrics +17