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Guida, Valentina
240
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Online (240)
Mediatypes
Articles (Online) (107)
OpenAccess-fulltext (133)
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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
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
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
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/..
?
11
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/..
?
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
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/..
?
14
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/..
?
15
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/..
1-15