E-LIB Suche - Ergebnisse für: Micalizzi, Alessia

1

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentr..:

Lombardo, Antonietta ; Sinibaldi, Lorenzo ; Genovese, Silvia...
International Journal of Molecular Sciences. 25 (2024) 13 - p. 6912 , 2024

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

2

Congenital Heart Defects in Patients with Molecularly Confi..:

Calcagni, Giulio ; Ferrigno, Federica ; Franceschini, Alessio...
Diagnostics. 14 (2024) 6 - p. 594 , 2024

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

3

COL4A1 gene mutations and perinatal intracranial hemorrhage..:

Bersani, Iliana ; Ronci, Sara ; Savarese, Immacolata...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

4

Refining of the electroclinical phenotype in familial and s..:

Trivisano, Marina ; Dominicis, Angela De ; Stregapede, Fabrizia...
Epilepsy & Behavior. 147 (2023) - p. 109436 , 2023

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

5

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023

Link: https://doi.org/10.1136/..

6

Congenital heart defects in CTNNB1 syndrome: Raising clinic..:

Sinibaldi, Lorenzo ; Garone, Giacomo ; Mandarino, Alessandra...
Clinical Genetics. 104 (2023) 5 - p. 528-541 , 2023

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

7

Osteopathia striata with cranial sclerosis: a new case supp..:

Sinibaldi, Lorenzo ; Micalizzi, Alessia ; Serra, Annalisa...
European Journal of Human Genetics. 30 (2022) 3 - p. 262-264 , 2022

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

8

MED13 mutation: A novel cause of developmental and epilepti..:

Trivisano, Marina ; De Dominicis, Angela ; Micalizzi, Alessia...
Seizure: European Journal of Epilepsy. 101 (2022) - p. 211-217 , 2022

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

9

Dominantly acting KIF5B variants with pleiotropic cellular ..:

Flex, Elisabetta ; Albadri, Shahad ; Radio, Francesca Clementina...
Human Molecular Genetics. 32 (2022) 3 - p. 473-488 , 2022

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

10

A patient with mosaic USP9X gene variant:

Barili, Valeria ; Dall'Asta, Andrea ; Uliana, Vera...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104638 , 2022

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

11

Endocannabinoid dysfunction in neurological disease: neuro-..:

Bainbridge, Matthew N ; Mazumder, Aloran ; Ogasawara, Daisuke...
Brain. 145 (2022) 10 - p. 3383-3390 , 2022

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

12

Genome-Wide DNA Methylation Profiling Solves Uncertainty in..:

Ferilli, Marco ; Ciolfi, Andrea ; Pedace, Lucia...
Genes. 13 (2022) 11 - p. 2163 , 2022

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

13

Posterior Lissencephaly Associated with Subcortical Band He..:

Contrò, Gianluca ; Micalizzi, Alessia ; Giangiobbe, Sara...
Genes. 12 (2021) 8 - p. 1208 , 2021

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

14

Clinical variability at the mild end ofBRAT1‐related spectr..:

Nuovo, Sara ; Baglioni, Valentina ; De Mori, Roberta...
Human Mutation. 43 (2021) 1 - p. 67-73 , 2021

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

15

Age and sex prevalence estimate of Joubert syndrome in Ital:

Nuovo, Sara ; Bacigalupo, Ilaria ; Ginevrino, Monia...
Neurology. 94 (2020) 8 - p. , 2020

Link: https://doi.org/10.1212/..