E-LIB Suche - Ergebnisse für: Fabbiani, Alessandra

1

VEXAS syndrome: a new paradigm for adult-onset monogenic au..:

Vitale, Antonio ; Caggiano, Valeria ; Bimonte, Antonio...
Internal and Emergency Medicine. 18 (2023) 3 - p. 711-722 , 2023

Link: https://doi.org/10.1007/..

2

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant..:

Doddato, Gabriella ; Fabbiani, Alessandra ; Fallerini, Chiara...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndro..:

Khan, Amjad ; Bruno, Lucia Pia ; Alomar, Fadhel...
Frontiers in Molecular Neuroscience. 15 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Identification of a Novel SHANK2 Pathogenic Variant in a Pa..:

Doddato, Gabriella ; Fabbiani, Alessandra ; Scandurra, Valeria...
Genes. 13 (2022) 4 - p. 688 , 2022

Link: https://doi.org/10.3390/..

5

CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:

Pavinato, Lisa ; Delle Vedove, Andrea ; Carli, Diana...
Brain. 146 (2022) 2 - p. 534-548 , 2022

Link: https://doi.org/10.1093/..

6

Exome Sequencing in BRCA1-2 Candidate Familias: The Contrib..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias..:

Doddato, Gabriella ; Valentino, Floriana ; Giliberti, Annarita...
Frontiers in Oncology. 11 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

New Candidates for Autism/Intellectual Disability Identifie..:

Bruno, Lucia Pia ; Doddato, Gabriella ; Valentino, Floriana...
International Journal of Molecular Sciences. 22 (2021) 24 - p. 13439 , 2021

Link: https://doi.org/10.3390/..

9

Anakinra and canakinumab for patients with R92Q-associated ..:

Gaggiano, Carla ; Rigante, Donato ; Hernández-Rodríguez, José...
Therapeutic Advances in Musculoskeletal Disease. 13 (2021) - p. 1759720X2110371 , 2021

Link: https://doi.org/10.1177/..

10

Exome Sequencing in 200 Intellectual Disability/Autistic Pa..:

Valentino, Floriana ; Bruno, Lucia Pia ; Doddato, Gabriella...
Brain Sciences. 11 (2021) 7 - p. 936 , 2021

Link: https://doi.org/10.3390/..

11

Spondyloocular Syndrome: A Novel XYLT2 Variant with Descrip..:

Doddato, Gabriella ; Fabbiani, Alessandra ; Fallerini, Chiara...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

12

Two‐point‐NGS analysis of cancer genes in cell‐free DNA of ..:

Palmieri, Maria ; Baldassarri, Margherita ; Fava, Francesca...
Cancer Medicine. 9 (2020) 6 - p. 2052-2061 , 2020

Link: https://doi.org/10.1002/..

13

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Ce..:

Gelli, Elisa ; Fallerini, Chiara ; Valentino, Floriana...
Frontiers in Oncology. 10 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

14

Hints for Genetic and Clinical Differentiation of Adult-Ons..:

Gaggiano, Carla ; Rigante, Donato ; Vitale, Antonio...
Mediators of Inflammation. 2019 (2019) - p. 1-29 , 2019

Link: https://doi.org/10.1155/..

15

PIK3CA-CDKN2A clonal evolution in metastatic breast cancer ..:

Palmieri, Maria ; Baldassarri, Margherita ; Fava, Francesca...
Cancer Cell International. 19 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..