E-LIB Suche - Ergebnisse für: Vitello, Girolamo

1

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/..

2

Interdisciplinary Multidimensional Assessment of Transthyre..:

Pennisi, Manuela ; Lanza, Giuseppe ; Vitello, Girolamo...
Life. 13 (2023) 12 - p. 2305 , 2023

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

3

Mitochondrial DNA involvement in patients with autism spect..:

Scuderi, Carmela ; Santa Paola, Sandro ; Lo Giudice, Mariangela...
Research in Autism Spectrum Disorders. 100 (2023) - p. 102084 , 2023

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

4

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/..

5

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/..

6

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/..

7

Role of COMT V158M Polymorphism in the Development of Dysto..:

Nicotera, Antonio Gennaro ; Di Rosa, Gabriella ; Turriziani, Laura...
Brain Sciences. 11 (2021) 10 - p. 1293 , 2021

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

8

Impact of daytime routine modifications on people with seve..:

Vetri, Luigi ; Elia, Maurizio ; Vitello, Girolamo Aurelio...
Perspectives in Psychiatric Care. 57 (2021) 3 - p. 1536-1537 , 2021

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

9

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene i..:

Vinci, Mirella ; Fichera, Marco ; Musumeci, Sebastiano Antonino..
Journal of Genetics. 97 (2018) 5 - p. 1469-1472 , 2018

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

10

Identification of novel mutations in L1CAM gene by a DHPLC-..:

Vinci, Mirella ; Falco, Michele ; Castiglia, Lucia...
Genes & Genomics. 38 (2016) 12 - p. 1159-1164 , 2016

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

11

The in cis T251I and P587L POLG1 base changes: Description ..:

Scuderi, Carmela ; Borgione, Eugenia ; Castello, Filippa...
Neuromuscular Disorders. 25 (2015) 4 - p. 333-339 , 2015

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

12

Carrier screening for spinal muscular atrophy in Italian po..:

CALÌ, FRANCESCO ; RUGGERI, GIUSEPPA ; CHIAVETTA, VALERIA...
Journal of Genetics. 93 (2014) 1 - p. 179-181 , 2014

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

13

Definition of 5q11.2 microdeletion syndrome reveals overlap..:

Snijders Blok, Charlotte ; Corsten‐Janssen, Nicole ; FitzPatrick, David R....
American Journal of Medical Genetics Part A. 164 (2014) 11 - p. 2843-2848 , 2014

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

14

6p22.3 deletion: report of a patient with autism, severe in..:

Di Benedetto, Daniela ; Di Vita, Giuseppa ; Romano, Corrado...
Molecular Cytogenetics. 6 (2013) 1 - p. 4 , 2013

Link: https://doi.org/10.1186/..

15

Coexistence of mitochondrial and nuclear DNA mutations in a..:

Scuderi, Carmela ; Borgione, Eugenia ; Castello, Filippa...
Mitochondrion. 10 (2010) 5 - p. 548-554 , 2010

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