E-LIB Suche - Ergebnisse für: Spaccini, Luigina

1

Genetic Epilepsies and Developmental Epileptic Encephalopat..:

Cavirani, Benedetta ; Spagnoli, Carlotta ; Caraffi, Stefano Giuseppe...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1248 , 2024

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

2

Amnioreduction for Polyhydramnios in a Consecutive Series a..:

Laoreti, Arianna ; Sala, Valentina ; Casati, Daniela...
Children. 11 (2024) 4 - p. 502 , 2024

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

3

Corrigendum: Newborn screening for X-linked adrenoleukodyst..:

Bonaventura, Eleonora ; Alberti, Luisella ; Lucchi, Simona...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

4

FDXR-associated disease: a challenging differential diagnos..:

Masnada, Silvia ; Previtali, Roberto ; Erba, Paola...
Neurological Sciences. 44 (2023) 9 - p. 3037-3043 , 2023

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

5

Newborn screening for X-linked adrenoleukodystrophy in Ital..:

Bonaventura, Eleonora ; Alberti, Luisella ; Lucchi, Simona...
Frontiers in Neurology. 13 (2023) - p. , 2023

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

6

Rock around DYRK1A: Ethnic diversity, clinical challenges:

Moroni, Alice ; Pezzani, Lidia ; Alfei, Enrico...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1459-1464 , 2023

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

7

Case report: Early-onset parkinsonism among the neurologica..:

Previtali, Roberto ; Leidi, Alessia ; Basso, Martina...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

8

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals w..:

Peron, Angela ; Alfano, Rosa Maria ; Moore, Barry...
Genetics in Medicine Open. 1 (2023) 1 - p. 100295 , 2023

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

9

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

10

Menkes disease complicated by concurrent ACY1 deficiency: A..:

Mauri, Alessia ; Saielli, Laura Assunta ; Alfei, Enrico...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

11

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences. 23 (2022) 11 - p. 5912 , 2022

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

12

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive ..:

Faraguna, Martha Caterina ; Musto, Francesca ; Crescitelli, Viola...
Genes. 13 (2022) 3 - p. 442 , 2022

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

13

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopi..:

Calcaterra, Valeria ; Lamberti, Rossella ; Viggiano, Claudia...
Case Reports in Pediatrics. 2022 (2022) - p. 1-4 , 2022

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

14

TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of ..:

Tortora, Mario ; Spaccini, Luigina ; Lanna, Mariano...
The Cerebellum. 22 (2022) 5 - p. 1023-1025 , 2022

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

15

Successful use of perampanel in GABRA1-related myoclonic ep..:

Olivotto, Sara ; Freddi, Anna ; Lavatelli, Rossella...
Epilepsy & Behavior Reports. 19 (2022) - p. 100544 , 2022

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