E-LIB Suche - Ergebnisse für: Leone, Maria Pia

1

Combined exome and whole transcriptome sequencing identifie..:

Morlino, Silvia ; Vaccaro, Lorenzo ; Leone, Maria Pia...
Journal of Human Genetics. 69 (2024) 6 - p. 287-290 , 2024

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

2

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics. 142 (2023) 6 - p. 785-808 , 2023

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

3

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Tre..:

Maggio, Angela ; Mastroianno, Sandra ; Di Stolfo, Giuseppe...
Cardiogenetics. 12 (2022) 1 - p. 80-88 , 2022

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

4

Compound Heterozygosity for OTOA Truncating Variant and Gen..:

Ortore, Rocco Pio ; Leone, Maria Pia ; Palumbo, Orazio...
Audiology Research. 11 (2021) 3 - p. 443-451 , 2021

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

5

Phenotypic Variability of a Pathogenic PKP2 Mutation in an ..:

Leone, Maria Pia ; Palumbo, Pietro ; Saenen, Johan...
Frontiers in Cardiovascular Medicine. 8 (2021) - p. , 2021

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

6

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affe..:

Cinque, Luigia ; Pugliese, Flavia ; Clemente, Celeste...
International Journal of Endocrinology. 2020 (2020) - p. 1-5 , 2020

Link: https://doi.org/10.1155/..

7

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in ..:

Leone, Maria Pia ; Palumbo, Pietro ; Palumbo, Orazio...
Italian Journal of Pediatrics. 46 (2020) 1 - p. , 2020

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

8

Compound Phenotype Due to Recessive Variants in LARP7 and O..:

Palumbo, Pietro ; Palumbo, Orazio ; Leone, Maria Pia...
Genes. 11 (2020) 4 - p. 379 , 2020

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

9

Double missense mutations in cardiac myosin‐binding protein..:

Mastroianno, Sandra ; Palumbo, Pietro ; Castellana, Stefano...
Annals of Noninvasive Electrocardiology. 25 (2019) 3 - p. , 2019

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

10

Sudden death in mild hypertrophic cardiomyopathy with compo..:

Castellana, Stefano ; Mastroianno, Sandra ; Palumbo, Pietro...
Journal of Electrocardiology. 53 (2019) - p. 95-99 , 2019

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

11

Refinement of the critical 7p22.1 deletion region: Haploins..:

Palumbo, Orazio ; Accadia, Maria ; Palumbo, Pietro...
European Journal of Medical Genetics. 61 (2018) 5 - p. 248-252 , 2018

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

12

Sudden cardiac death in J wave syndrome with short QT assoc..:

Di Stolfo, Giuseppe ; Palumbo, Pietro ; Castellana, Stefano...
Journal of Electrocardiology. 51 (2018) 5 - p. 809-813 , 2018

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

13

A novel mutation in CDH11, encoding cadherin‐11, cause Bran..:

Castori, Marco ; Ott, Claus‐Eric ; Bisceglia, Luigi...
American Journal of Medical Genetics Part A. 176 (2018) 9 - p. 2028-2033 , 2018

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

14

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss d..:

Leone, Maria Pia ; Palumbo, Pietro ; Ortore, Rocco...
Molecular and Cellular Probes. 33 (2017) - p. 24-27 , 2017

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

15

Clinical and molecular characterization of a second family ..:

Fischetto, Rita ; Palumbo, Orazio ; Ortolani, Federica...
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1922-1930 , 2017

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