E-LIB Suche - Ergebnisse für: alesi, viola

1

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/..

2

METB-04. UTILITY OF OPTICAL GENOME MAPPING IN THE CHARACTER..:

alesi, viola ; Genovese, Silvia ; Russo, Serena...
Neuro-Oncology. 26 (2024) Supplement_4 - p. 0-0 , 2024

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

3

Case report: A new de novo 6q21q22.1 interstitial deletion ..:

Minotti, Chiara ; Graziani, Ludovico ; Sallicandro, Ester...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

4

Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-b..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry. 15 (2024) - p. , 2024

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

5

PTCHD1 gene mutation/deletion: the cognitive-behavioral phe..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry. 14 (2024) - p. , 2024

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

6

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/..

7

A non‐hemispheric transtentorial ZFTA fusion‐positive epend..:

Cardoni, Antonello ; Barresi, Sabina ; Piccirilli, Eleonora...
Neuropathology and Applied Neurobiology. 49 (2023) 1 - p. , 2023

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

8

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spect..:

Alesi, Viola ; Genovese, Silvia ; Lepri, Francesca Romana...
Biomolecules. 13 (2023) 5 - p. 725 , 2023

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

9

Paediatric astroblastoma‐like neuroepithelial tumour of the..:

Rossi, Sabrina ; Barresi, Sabina ; Colafati, Giovanna Stefania...
Neuropathology and Applied Neurobiology. 48 (2022) 5 - p. , 2022

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

10

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, Maria B. ; Levy, Amanda M. ; Mohammadi, Nazanin A....
Clinical Genetics. 102 (2022) 2 - p. 98-109 , 2022

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

11

Reciprocal Xp11.4p11.3 microdeletion/microduplication spann..:

Catino, Giorgia ; Genovese, Silvia ; Di Tommaso, Silvia...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1836-1847 , 2022

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

12

Intragenic inversions in NF1 gene as pathogenic mechanism i..:

Alesi, Viola ; Lepri, Francesca Romana ; Dentici, Maria Lisa...
European Journal of Human Genetics. 30 (2022) 11 - p. 1239-1243 , 2022

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

13

Different Mechanisms Cause Hypomethylation of Both H19 and ..:

Passaretti, Francesco ; Pignata, Laura ; Vitiello, Giuseppina...
Genes. 13 (2022) 10 - p. 1875 , 2022

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

14

Neurological and Neuroimaging Features of CYB5R3-Related Re..:

Nicita, Francesco ; Sabatini, Letizia ; Alesi, Viola...
Brain Sciences. 12 (2022) 2 - p. 182 , 2022

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

15

Cardiovascular Involvement in Pediatric FLNC Variants: A Ca..:

Baban, Anwar ; Alesi, Viola ; Magliozzi, Monia...
Journal of Cardiovascular Development and Disease. 9 (2022) 10 - p. 332 , 2022

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