Concepedia

Isabella Mammi

IM

Statistics

Publications

25

Citations

1.3K

H-Index

18

Active since

1992

Affiliations

University of Padua(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

University of Bologna

IRCCS Eugenio Medea

Fondazione IRCCS Istituto Neurologico Carlo Besta

Isabella Mammi is an author at University of Padua specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

1992–2021

25

Publications

25

Methimazole embryopathy: Delineation of the phenotype

Maurizio Clementi, Elena Di Gianantonio, Elisabetta Pelo et al. · American Journal of Medical Genetics · 1999 · 203 citations

, , +13

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 · 163 citations · Full text

, , +7

Phenotypic clustering of lamin A/C mutations in neuromuscular patients

Sara Benedetti, I. Menditto, Massimo Degano et al. · Neurology · 2007 · 128 citations

Neurofibromatosis type 1 growth charts

Massimo Clementi, Silvano Milani, Isabella Mammi et al. · American Journal of Medical Genetics · 1999 · 104 citations · Full text

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 · 102 citations · Full text

1–5 of 25