E-LIB Suche - Ergebnisse für: Sandro Banfi

1

Towards Uncovering the Role of Incomplete Penetrance in Mac..:

Hitti-Malin, Rebekkah J. ; Panneman, Daan M. ; Corradi, Zelia...
Biomolecules. 14 (2024) 3 - p. 367 , 2024

2

Whole genome sequencing identifies elusive variants in gene..:

Zeuli, Roberta ; Karali, Marianthi ; de Bruijn, Suzanne E....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100314 , 2024

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

3

Novel and Recurrent Copy Number Variants in ABCA4-Associate..:

Corradi, Zelia ; Dhaenens, Claire-Marie ; Grunewald, Olivier...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5940 , 2024

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

4

Objective Outcomes to Evaluate Voretigene Neparvovec Treatm..:

Melillo, Paolo ; Testa, Francesco ; Di Iorio, Valentina...
Ophthalmology Retina. 8 (2024) 7 - p. 688-698 , 2024

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

5

Multicentric Longitudinal Prospective Study in a European C..:

Testa, Francesco ; Carreño, Ester ; van den Born, L. Ingeborgh...
Investigative Ophthalmology & Visual Science. 65 (2024) 6 - p. 25 , 2024

Link: https://doi.org/10.1167/..

6

Late‐onset mucopolysaccharidosis type IIIA mimicking Usher ..:

De Falco, Alessandro ; Karali, Marianthi ; Criscuolo, Chiara...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

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

7

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology. 11 (2023) - p. , 2023

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

8

Novel variants in genes related to vesicle-mediated-transpo..:

Goldstein, Orly ; Gana-Weisz, Mali ; Banfi, Sandro...
Molecular Genetics and Metabolism. 139 (2023) 2 - p. 107608 , 2023

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

9

Definition of the transcriptional units of inherited retina..:

Ruiz-Ceja, Karla Alejandra ; Capasso, Dalila ; Pinelli, Michele...
BMC Genomics. 24 (2023) 1 - p. , 2023

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

10

CHAMP1-related disorders: pathomechanisms triggered by diff..:

Amenta, Simona ; Marangi, Giuseppe ; Orteschi, Daniela...
European Journal of Human Genetics. 31 (2023) 6 - p. 648-653 , 2023

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

11

A multidisciplinary approach to inherited retinal dystrophi..:

Murro, Vittoria ; Banfi, Sandro ; Testa, Francesco...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

12

Targeted sequencing and in vitro splice assays shed light o..:

Corradi, Zelia ; Khan, Mubeen ; Hitti-Malin, Rebekkah...
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100237 , 2023

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

13

Patients with DeSanto–Shinawi syndrome: Further extension o..:

Pasquali, Daniela ; Torella, Annalaura ; Grandone, Anna...
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 823-830 , 2022

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

14

RPE65-Associated Retinopathies in the Italian Population: A..:

Testa, Francesco ; Murro, Vittoria ; Signorini, Sabrina...
Investigative Opthalmology & Visual Science. 63 (2022) 2 - p. 13 , 2022

Link: https://doi.org/10.1167/..

15

Specialization of the photoreceptor transcriptome bySrrm3-d..:

Ciampi, Ludovica ; Mantica, Federica ; López-Blanch, Laura...
Proceedings of the National Academy of Sciences. 119 (2022) 29 - p. , 2022

Link: https://doi.org/10.1073/..