E-LIB Suche - Ergebnisse für: Guida, Valentina

1

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte an..:

Frustaci, Andrea ; De Luca, Alessandro ; Verardo, Romina...
Biomedicines. 12 (2024) 5 - p. 1060 , 2024

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

2

Early genetic analysis by next‐generation sequencing improv..:

Petrarca, Laura ; De Luca, Alessandro ; Nenna, Raffaella...
Pediatric Pulmonology. 58 (2023) 10 - p. 2950-2953 , 2023

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

3

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics. 31 (2023) 4 - p. 479-484 , 2023

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

4

FOXI3 pathogenic variants cause one form of craniofacial mi..:

Mao, Ke ; Borel, Christelle ; Ansar, Muhammad...
Nature Communications. 14 (2023) 1 - p. , 2023

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

5

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21...:

Ambrosetti, Irene ; Bernardini, Laura ; Pollazzon, Marzia...
Genes. 14 (2023) 8 - p. 1526 , 2023

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

6

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Pati..:

Guida, Valentina ; Calzari, Luciano ; Fadda, Maria Teresa...
International Journal of Molecular Sciences. 22 (2021) 3 - p. 1190 , 2021

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

7

Copy number variation analysis implicates novel pathways in..:

Guida, Valentina ; Sparascio, Francesca Piceci ; Bernardini, Laura...
Clinical Genetics. 100 (2021) 3 - p. 268-279 , 2021

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

8

Prenatal findings of cataract and arthrogryposis: recurrenc..:

Sirchia, Fabio ; Fantasia, Ilaria ; Feresin, Agnese...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

9

Novel dilated cardiomyopathy associated to Calreticulin and..:

Frustaci, Andrea ; De Luca, Alessandro ; Galea, Nicola...
ESC Heart Failure. 8 (2021) 3 - p. 2310-2315 , 2021

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

10

Assessment of left ventricular diastolic function by three‐..:

Badano, Luigi P. ; Muraru, Denisa ; Ciambellotti, Francesca...
Echocardiography. 37 (2020) 11 - p. 1951-1956 , 2020

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

11

Common atrium/atrioventricular canal defect and postaxial p..:

Piceci‐Sparascio, Francesca ; Palencia‐Campos, Adrian ; Soto‐Bielicka, Patricia...
Human Mutation. 41 (2020) 12 - p. 2087-2093 , 2020

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

12

Neonatal Marfan Syndrome by Inherited Mutation:

Mastromoro, Gioia ; Guida, Valentina ; Cellitti, Raffaella...
The Indian Journal of Pediatrics. 88 (2020) 2 - p. 176-177 , 2020

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

13

Atrioventricular canal defect as partial expression of hete..:

Digilio, M. Cristina ; Calcagni, Giulio ; De Luca, Alessandro..
The Journal of Pediatrics. 218 (2020) - p. 263-264 , 2020

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

14

Development and prognostic validation of partition values t..:

Muraru, Denisa ; Badano, Luigi P ; Nagata, Yasufumi...
European Heart Journal - Cardiovascular Imaging. 21 (2019) 1 - p. 10-21 , 2019

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

15

A new case of SMABF2 diagnosed in stillbirth expands the pr..:

Giuffrida, Maria G. ; Mastromoro, Gioia ; Guida, Valentina...
American Journal of Medical Genetics Part A. 182 (2019) 3 - p. 508-512 , 2019

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