E-LIB Suche - Ergebnisse für: Salpietro, A.

1

CDKL5 deficiency-related neurodevelopmental disorders: a mu..:

Dell'Isola, Giovanni Battista ; Antonella, Fattorusso ; Francesco, Pisani...
Journal of Neurology. , 2024

2

Distinct neurodevelopmental and epileptic phenotypes associ..:

Mohammadi, Nazanin Azarinejad ; Ahring, Philip Kiær ; Yu Liao, Vivian Wan...
eBioMedicine. 106 (2024) - p. 105236 , 2024

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

3

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

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

4

The clinical and genetic spectrum of inherited glycosylphos..:

Sidpra, Jai ; Sudhakar, Sniya ; Biswas, Asthik...
Brain. 147 (2024) 8 - p. 2775-2790 , 2024

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

5

Safety and Psychological Outcomes of Tandem t:Slim X2 Insul..:

Mameli, Chiara ; Smylie, Giula Maria ; Marigliano, Marco...
Diabetes Therapy. , 2024

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

6

A second hotspot for pathogenic exon-skipping variants in C..:

Schoch, Kelly ; Ruegg, Mischa S. G. ; Fellows, Bridget J....
European Journal of Human Genetics. 32 (2024) 7 - p. 786-794 , 2024

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

7

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine. 26 (2024) 5 - p. 101097 , 2024

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

8

Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review..:

Scorrano, Giovanna ; Battaglia, Laura ; Spiaggia, Rossana...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

9

The Cognitive and Behavioural Effects of Perampanel in Chil..:

Scorrano, Giovanna ; Lattanzi, Simona ; Salpietro, Vincenzo...
Journal of Clinical Medicine. 13 (2024) 2 - p. 372 , 2024

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

10

Clinical and molecular heterogeneity of VPS13D-related neur..:

Sultan, Tipu ; Scorrano, Giovanna ; Panciroli, Marta...
Gene. 899 (2024) - p. 148119 , 2024

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

11

P678: Biallelic variants in BECN1 are associated with a com..:

Ullah, Farid ; Salpietro, Vincenzo ; Coghlan, Meghan...
Genetics in Medicine Open. 2 (2024) - p. 101582 , 2024

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

12

Clinical and molecular characterization of patients with YW..:

Cetica, Valentina ; Pisano, Tiziana ; Lesca, Gaetan...
Epilepsia. 65 (2024) 5 - p. 1439-1450 , 2024

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

13

Human mutations in SLITRK3 implicated in GABAergic synapse ..:

Efthymiou, Stephanie ; Han, Wenyan ; Ilyas, Muhammad...
Frontiers in Molecular Neuroscience. 17 (2024) - p. , 2024

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

14

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

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

15

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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