E-LIB Suche - Ergebnisse für: Ceravolo, Giorgia

1

The Cardiofaciocutaneous Syndrome: From Genetics to Prognos..:

Scorrano, Giovanna ; David, Emanuele ; Calì, Elisa...
Genes. 14 (2023) 12 - p. 2111 , 2023

2

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders. 39 (2023) 1 - p. 141-151 , 2023

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

3

Recessive variants in SLC9A1 cause a syndrome of cerebellar..:

Ceravolo, Giorgia ; Pellerin, David ; Maroofian, Reza.
Journal of the Neurological Sciences. 455 (2023) - p. 121930 , 2023

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

4

ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrom..:

Amore, Greta ; Calì, Elisa ; Spanò, Maria...
Brain and Development. 45 (2023) 10 - p. 588-596 , 2023

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

5

Update on leukodystrophies and developing trials:

Ceravolo, Giorgia ; Zhelcheska, Kristina ; Squadrito, Violetta...
Journal of Neurology. 271 (2023) 1 - p. 593-605 , 2023

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

6

IL‐17 serum level in patients with chronic mucocutaneous ca..:

Chimenz, Roberto ; Tropeano, Angelo ; Chirico, Valeria...
Pediatric Allergy and Immunology. 33 (2022) S27 - p. 77-79 , 2022

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

7

Update on the Classification and Pathophysiological Mechani..:

Ceravolo, Giorgia ; Macchia, Tommaso La ; Cuppari, Caterina...
Children. 8 (2021) 7 - p. 528 , 2021

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

8

Fabry disease and kidney involvement: starting from childho..:

Chimenz, Roberto ; Chirico, Valeria ; Cuppari, Caterina...
Pediatric Nephrology. 37 (2021) 1 - p. 95-103 , 2021

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

9

Biallelic Variants in KIF17 Associated with Microphthalmia ..:

Riva, Antonella ; Gambadauro, Antonella ; Dipasquale, Valeria...
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4471 , 2021

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

10

Contrast-enhanced voiding urosonography in the assessment o..:

Sofia, Carmelo ; Solazzo, Antonio ; Cattafi, Antonino...
La radiologia medica. 126 (2021) 7 - p. 901-909 , 2021

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

11

Prominent and Regressive Brain Developmental Disorders Asso..:

Casto, Celeste ; Dipasquale, Valeria ; Ceravolo, Ida...
Brain Sciences. 11 (2021) 9 - p. 1150 , 2021

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

12

Branch Retinal Artery Occlusion after Percutaneous Coronary..:

La Macchia, Tommaso ; Albiero, Remo ; Invernizzi, Tommaso...
Case Reports in Cardiology. 2021 (2021) - p. 1-4 , 2021

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

13

Health Potential of Aloe vera against Oxidative Stress Indu..:

Ceravolo, Ida ; Mannino, Federica ; Irrera, Natasha...
Antioxidants. 10 (2021) 2 - p. 318 , 2021

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

14

Detailed analysis of ITPR1 missense variants guides diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
https://pure.qub.ac.uk/en/publications/134241f0-4754-43dd-ad82-ea9aabf504d7. , 2024

Link: https://pure.qub.ac.uk/e..

15

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
https://discovery.ucl.ac.uk/id/eprint/10181855/1/Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides.pdf. , 2023

Link: https://discovery.ucl.ac..