Sabrina Giglio - Dissemin

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All papers authored by Sabrina Giglio

This paper is made freely available by the publisher.

2022 Aldesia Provenzano

ORCID

, Andrea La Barbera

ORCID

, Francesco Lai, Andrea Perra, Antonio Farina

ORCID

, Ettore Cariati, Orsetta Zuffardi, Sabrina Giglio

ORCID

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females

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This paper is made freely available by the publisher.

2021 Aldesia Provenzano

ORCID

, Antonio Farina

ORCID

, Anna Seidenari, Francesco Azzaroli

ORCID

, Carla Serra, Anna Della Gatta

ORCID

, Orsetta Zuffardi, Sabrina Rita Giglio

ORCID

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder

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This paper is made freely available by the publisher.

Valentina Bruni

ORCID

, Cristina Barbara Spoleti, Andrea La Barbera

ORCID

, Vincenzo Dattilo, Emma Colao

ORCID

, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio

ORCID

, Rodolfo Iuliano

ORCID

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

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This paper is made freely available by the publisher.

2020 Aldesia Provenzano

ORCID

, Andrea La Barbera

ORCID

, Mirko Scagnet

ORCID

, Angelica Pagliazzi

ORCID

, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas

ORCID

, Silvia Guarducci, Sara Bargiacchi

ORCID

, Giulia Forzano, Rosangela Artuso

ORCID

, Viviana Palazzo

ORCID

, Ada Kura

ORCID

and 10 other authors

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

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This paper is made freely available by the publisher.

Evelise Brizola

ORCID

ORCID

, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera

ORCID

, Sabrina Giglio

ORCID

, Luca Sangiorgi

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

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