E-LIB Suche - Ergebnisse für: Cocciadiferro, Dario

1

Exploiting in silico structural analysis to introduce emerg..:

Cocciadiferro, Dario ; Mazza, Tommaso ; Vecchio, Davide...
Frontiers in Genetics. 14 (2024) - p. , 2024

2

Early prenatal diagnosis of a recurrent case of short-rib t..:

Fontana, Paolo ; Agolini, Emanuele ; Cocciadiferro, Dario...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

3

Clinical and functional characterization of COL2A1 p.Gly444..:

Marchionni, Enrica ; D'Apice, Maria Rosaria ; Lupo, Viviana...
Bone Reports. 19 (2023) - p. 101728 , 2023

Link: https://doi.org/10.1016/..

4

Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Torres, Barbara...
Genes. 14 (2023) 12 - p. 2157 , 2023

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

5

COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Respon..:

Murdocca, Michela ; Citro, Gennaro ; Centanini, Eleonora...
Viruses. 15 (2023) 7 - p. 1417 , 2023

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

6

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

Link: https://doi.org/10.1038/..

7

Delineation of the clinical profile of CNOT2 haploinsuffici..:

Niceta, Marcello ; Pizzi, Simone ; Inzana, Francesca...
Clinical Genetics. 103 (2022) 2 - p. 156-166 , 2022

Link: https://doi.org/10.1111/..

8

Whole Exome Sequencing in 16p13.11 Microdeletion Patients R..:

Granata, Paola ; Cocciadiferro, Dario ; Zito, Alessandra...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

9

Expanding the novel MAPKAPK5–related developmental disorder..:

Vecchio, Davide ; Cocciadiferro, Dario ; Macchiaiolo, Marina...
Clinical Genetics. 102 (2022) 2 - p. 142-148 , 2022

Link: https://doi.org/10.1111/..

10

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome..:

Siano, Maria Anna ; De Maggio, Ilaria ; Petillo, Roberta...
Pediatric Reports. 14 (2022) 1 - p. 131-139 , 2022

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

11

Expression analysis of miRNA hsa‐let7b‐5p in naso‐oropharyn..:

Latini, Andrea ; Vancheri, Chiara ; Amati, Francesca...
Journal of Cellular and Molecular Medicine. 26 (2022) 19 - p. 4940-4948 , 2022

Link: https://doi.org/10.1111/..

12

A case report of isoniazid adverse drug reaction in a pedia..:

Cocciadiferro, Dario ; Cursi, Laura ; Cairoli, Sara...
Medicine: Case Reports and Study Protocols. 2 (2021) 2 - p. e0043 , 2021

Link: https://doi.org/10.1097/..

13

Copy number variation analysis implicates novel pathways in..:

Guida, Valentina ; Sparascio, Francesca Piceci ; Bernardini, Laura...
Clinical Genetics. 100 (2021) 3 - p. 268-279 , 2021

Link: https://doi.org/10.1111/..

14

Poking COVID-19: Insights on Genomic Constraints among Immu..:

Mbarek, Hamdi ; Cocca, Massimiliano ; Al-Sarraj, Yasser...
Genes. 12 (2021) 11 - p. 1842 , 2021

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

15

Clinical presentation and molecular characterization of a n..:

Majore, Silvia ; Agolini, Emanuele ; Micale, Lucia...
Clinical Genetics. 99 (2021) 4 - p. 540-546 , 2021

Link: https://doi.org/10.1111/..