E-LIB Suche - Ergebnisse für: Calì, Francesco

1

Whole Exome Sequencing as a First-Line Molecular Genetic Te..:

Vetri, Luigi ; Calì, Francesco ; Saccone, Salvatore...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1146 , 2024

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

2

Implications of a De Novo Variant in the SOX12 Gene in a Pa..:

Treccarichi, Simone ; Calì, Francesco ; Vinci, Mirella...
Current Issues in Molecular Biology. 46 (2024) 7 - p. 6407-6422 , 2024

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

3

Next Generation Sequencing and Electromyography Reveal the ..:

Vinci, Mirella ; Vitello, Girolamo ; Greco, Donatella...
Current Issues in Molecular Biology. 46 (2024) 2 - p. 1150-1163 , 2024

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

4

UNC5C: Novel Gene Associated with Psychiatric Disorders Imp..:

Treccarichi, Simone ; Failla, Pinella ; Vinci, Mirella...
Genes. 15 (2024) 3 - p. 306 , 2024

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

5

Specific Learning Disorders: Variation Analysis of 15 Candi..:

Calì, Francesco ; Di Blasi, Francesco Domenico ; Avola, Emanuela...
Medicina. 59 (2023) 8 - p. 1503 , 2023

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

6

Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Inv..:

Nicotera, Antonio Gennaro ; Amore, Greta ; Saia, Maria Concetta...
NeuroMolecular Medicine. 25 (2023) 4 - p. 650-656 , 2023

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

7

Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10..:

Norata, Davide ; Alonge, Paolo ; Grillo, Lucia...
Neurological Sciences. , 2023

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

8

STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to De..:

Vinci, Mirella ; Costanza, Carola ; Galati Rando, Rosanna...
International Journal of Molecular Sciences. 24 (2023) 22 - p. 16436 , 2023

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

9

KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A ..:

Amore, Greta ; Butera, Ambra ; Spoto, Giulia...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

10

Allelic Variations in the Human Genes TMPRSS2 and CCR5, and..:

Vitello, Girolamo Aurelio ; Federico, Concetta ; Bruno, Francesca...
International Journal of Molecular Sciences. 23 (2022) 16 - p. 9171 , 2022

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

11

Exome sequencing in a child with neurodevelopmental disorde..:

Vinci, Mirella ; Kursula, Petri ; Greco, Donatella...
Molecular Genetics & Genomic Medicine. 10 (2022) 9 - p. , 2022

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

12

PHF21A Related Disorder: Description of a New Case:

Butera, Ambra ; Nicotera, Antonio Gennaro ; Di Rosa, Gabriella...
International Journal of Molecular Sciences. 23 (2022) 24 - p. 16130 , 2022

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

13

Sensory-Adapted Dental Environment for the Treatment of Pat..:

Fallea, Antonio ; Zuccarello, Rosa ; Roccella, Michele...
Children. 9 (2022) 3 - p. 393 , 2022

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

14

Identification of a Novel Missense Mutation of POLR3A Gene ..:

Musumeci, Antonino ; Calì, Francesco ; Scuderi, Carmela...
Biomedicines. 10 (2022) 9 - p. 2276 , 2022

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

15

Implementation of Sample Pooling Procedure Using a Rapid SA..:

Musumeci, Antonino ; Vinci, Mirella ; L'Episcopo, Francesca...
International Journal of Environmental Research and Public Health. 18 (2021) 17 - p. 9317 , 2021

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