Concepedia

Gigliola Serra

GS

Statistics

Publications

11

Citations

341

H-Index

11

Active since

1995

Affiliations

University of Sassari(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Fondazione IRCCS Istituto Neurologico Carlo Besta

Università Cattolica del Sacro Cuore

Ospedale Microcitemico

Gigliola Serra is an author at University of Sassari specializing in genetics, life sciences, and human genetics.

Publications per year

1995–2019

11

Publications

11

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

, , +16

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 · 79 citations

, , +17

Patau syndrome with long survival in a case of unusual mosaic trisomy 13

Giuseppina Fogu, Emanuela Maserati, Francesca Cambosu et al. · European Journal of Medical Genetics · 2008 · 30 citations

, , +11

Novel X-linked mental retardation syndrome with short stature maps to Xq24

Emilia Vitale, Claudia Specchia, Marcella Devoto et al. · American Journal of Medical Genetics · 2001 · 20 citations

, , +11

Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies

Giuseppina Fogu, Pasquale Bandiera, Francesca Cambosu et al. · European Journal of Medical Genetics · 2006 · 18 citations

, , +15

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