Concepedia

Liborio Stuppia

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Statistics

Publications

164

Citations

6.2K

H-Index

43

Active since

1986

Affiliations

University of Chieti-Pescara(Current)

Azienda USL di Pescara

Istituti di Ricovero e Cura a Carattere Scientifico

Sapienza University of Rome

Ospedale SS. Annunziata

Liborio Stuppia is an author at University of Chieti-Pescara specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1986–2024

164

Publications

164

A restricted spectrum of NRAS mutations causes Noonan syndrome

Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský et al. · Nature Genetics · 2009 · 317 citations · Full text

, , +7

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 305 citations

, , +17

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

E. Clementini, Chiara Palka, Irene Iezzi et al. · Human Reproduction · 2004 · 148 citations · Full text

, , +17

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11

Liborio Stuppia, Valentina Gatta, Giuseppe Calabrese et al. · Human Genetics · 1998 · 145 citations

, , +12

Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

Francesco Brancati, Paola Fortugno, Irene Bottillo et al. · The American Journal of Human Genetics · 2010 · 122 citations · Full text

, , +12

1–5 of 164