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Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Published in:
Cancers, 2023, v. 15, n. 24, p. 5730, doi. 10.3390/cancers15245730
By:
- Di Rado, Sara;
- Giansante, Roberta;
- Cicirelli, Michela;
- Pilenzi, Lucrezia;
- Dell'Elice, Anastasia;
- Anaclerio, Federico;
- Rimoldi, Martina;
- Grassadonia, Antonino;
- Grossi, Simona;
- Canale, Nicole;
- Ballerini, Patrizia;
- Stuppia, Liborio;
- Antonucci, Ivana
Publication type:
Article
A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.
Published in:
Biomedicines, 2024, v. 12, n. 8, p. 1742, doi. 10.3390/biomedicines12081742
By:
- Ferrante, Rossella;
- Tumini, Stefano;
- Saltarelli, Maria Alessandra;
- Di Rado, Sara;
- Scorrano, Vincenzo;
- Tommolini, Maria Lucia;
- Zucchelli, Mirco;
- Lauriola, Federico;
- Lisi, Gabriele;
- Lauriti, Giuseppe;
- Marino, Nino;
- Stuppia, Liborio;
- Rossi, Claudia;
- Bucci, Ines
Publication type:
Article
Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.
Published in:
Biomedicines, 2023, v. 11, n. 10, p. 2672, doi. 10.3390/biomedicines11102672
By:
- Rossi, Claudia;
- Ferrante, Rossella;
- Valentinuzzi, Silvia;
- Zucchelli, Mirco;
- Buccolini, Carlotta;
- Di Rado, Sara;
- Trotta, Daniela;
- Stuppia, Liborio;
- Federici, Luca;
- Aricò, Maurizio
Publication type:
Article
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Published in:
Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1062326
By:
- Luongo, Francesca Paola;
- Luddi, Alice;
- Ponchia, Rosetta;
- Ferrante, Rossella;
- Di Rado, Sara;
- Paccagnini, Eugenio;
- Gentile, Mariangela;
- Lupetti, Pietro;
- Guazzo, Raffaella;
- Orrico, Alfredo;
- Stuppia, Liborio;
- Piomboni, Paola
Publication type:
Article

Found: 4

Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.

Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.