E-LIB Suche - Ergebnisse für: Barrano, Giuseppe

1

Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Gen..:

Denaro, Maria ; Ferro, Elisa ; Barrano, Giuseppe...
International Journal of Molecular Sciences. 24 (2023) 5 - p. 4742 , 2023

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

2

Clinical Application of Easychip 8x15K Platform in 4106 Pre..:

Orlando, Valeria ; Alesi, Viola ; Di Giacomo, Gianluca...
Reproductive Sciences. 28 (2021) 4 - p. 1142-1149 , 2021

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

3

What is the impact of a novel MED12 variant on syndromic co..:

Amodeo, Silvia ; Vitrano, Giuseppe ; Guardino, Melania...
Italian Journal of Pediatrics. 46 (2020) 1 - p. , 2020

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

4

Identification of Duchenne/Becker muscular dystrophy mosaic..:

Zampatti, Stefania ; Mela, Julia ; Peconi, Cristina...
Prenatal Diagnosis. 38 (2018) 13 - p. 1096-1102 , 2018

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

5

A New Splicing Mutation in the L1CAM Gene Responsible for X..:

Ferese, Rosangela ; Zampatti, Stefania ; Griguoli, Anna Maria Pia...
Journal of Molecular Neuroscience. 59 (2016) 3 - p. 376-381 , 2016

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

6

335.4kb microduplication in chromosome band Xp11.2p11.3 ass..:

Alesi, Viola ; Bertoli, Marta ; Barrano, Giuseppe...
Gene. 505 (2012) 2 - p. 384-387 , 2012

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

7

A previously undescribed de novo 4p15 deletion in a patient..:

Alesi, Viola ; Barrano, Giuseppe ; Morara, Sara...
American Journal of Medical Genetics Part A. 155 (2011) 10 - p. 2543-2551 , 2011

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

8

Clinical, neuropsychological, neurophysiologic, and genetic..:

Suppa, Antonio ; Berardelli, Alfredo ; Brancati, Francesco...
Epilepsia. 50 (2009) 5 - p. 1284-1288 , 2009

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

9

Atypical phenotypes and clinical variability in a large Ita..:

Gambarin, Mattia ; Valente, Enza Maria ; Liberini, Paolo...
Movement Disorders. 21 (2006) 10 - p. 1782-1784 , 2006

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

10

Mutations in CEP290, which encodes a centrosomal protein, c..:

Valente, Enza Maria ; Silhavy, Jennifer L ; Brancati, Francesco...
Nature Genetics. 38 (2006) 6 - p. 623-625 , 2006

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

11

AHI1 gene mutations cause specific forms of Joubert syndrom..:

Valente, Enza Maria ; Brancati, Francesco ; Silhavy, Jennifer L....
Annals of Neurology. 59 (2006) 3 - p. 527-534 , 2006

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

12

Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Gen..:

Maria Denaro ; Elisa Ferro ; Giuseppe Barrano...
Molecular Pathology, Diagnostics, and Therapeutics. , 2023

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

13

Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Gen..:

Maria Denaro ; Elisa Ferro ; Giuseppe Barrano...
https://www.mdpi.com/1422-0067/24/5/4742. , 2023

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

14

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng-Jia ; Rocca, Clarissa...
info:eu-repo/semantics/altIdentifier/pmid/36001086. , 2022

Link: http://hdl.handle.net/11..

15

What is the impact of a novel MED12 variant on syndromic co..:

Silvia Amodeo ; Giuseppe Vitrano ; Melania Guardino...
volume:46. , 2020

Link: http://hdl.handle.net/10..