Concepedia

Enrico Alfei

EA

20

Publications

750

Citations

15

H-Index

2009

Active since

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University of Milan

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

University of Pavia

Istituti di Ricovero e Cura a Carattere Scientifico

Enrico Alfei is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2009–2021

20

Publications

20

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E. Timms, Karen W. Gripp et al. · Brain · 2017 · 110 citations · Full text

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi et al. · American Journal of Medical Genetics Part A · 2011 · 77 citations

, , +19

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Maria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti et al. · PLoS ONE · 2014 · 62 citations · Full text

, , +15

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fabiana Fattori, Lorenzo Maggi, Claudio Bruno et al. · Journal of Neurology · 2015 · 60 citations

, , +7

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Claudia Ciaccio, Veronica Saletti, Stefano D’Arrigo et al. · European Journal of Medical Genetics · 2018 · 58 citations

, , +6

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