Concepedia

Maria Rosaria Piemontese

MR

16

Publications

861

Citations

13

H-Index

1995

Active since

Affiliations

Casa Sollievo della Sofferenza(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Nuovo Ospedale San Giovanni di Dio

Bambino Gesù Children's Hospital

University of Naples Federico II

Maria Rosaria Piemontese is an author at Casa Sollievo della Sofferenza specializing in medicine, genetics, and molecular genetics.

Top concepts

Publications per year

1995–2021

16

Publications

16

Positional cloning of the Fanconi anaemia group A gene

Sinoula Apostolou, S.A. Whitmore, Joanna Crawford et al. · Nature Genetics · 1996 · 294 citations

, , +6

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

Rossella Venditti, Tiziana Scanu, Michele Santoro et al. · Science · 2012 · 171 citations

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 80 citations · Full text

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey et al. · Genetics in Medicine · 2021 · 45 citations

, , +12

Combined 17α-Hydroxylase/17,20-Lyase Deficiency Caused by Phe93Cys Mutation in the CYP17 Gene

Alfredo Di Cerbo, Anna Biason‐Lauber, Maria Rosaria Piemontese et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 39 citations

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