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Loddo, Sara
114
results:
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Online (114)
Mediatypes
Articles (Online) (56)
OpenAccess-fulltext (58)
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english (107)
italian (2)
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1
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: ..:
Politi, Cristina
;
Grillone, Katia
;
Nocera, Donatella
...
Genes. 15 (2024) 1 - p. 103 , 2024
Link:
https://doi.org/10.3390/..
?
2
Case report: A new de novo 6q21q22.1 interstitial deletion ..:
Minotti, Chiara
;
Graziani, Ludovico
;
Sallicandro, Ester
...
Frontiers in Genetics. 14 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
Clinical and molecular cytogenetic studies of five new pati..:
Bensaid, Souad
;
Bendahmane, Malika
;
Loddo, Sara
...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1002/..
?
4
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spect..:
Alesi, Viola
;
Genovese, Silvia
;
Lepri, Francesca Romana
...
Biomolecules. 13 (2023) 5 - p. 725 , 2023
Link:
https://doi.org/10.3390/..
?
5
Identifying phenotypic expansions for congenital diaphragma..:
Hardcastle, Amy
;
Berry, Aliska M.
;
Campbell, Ian M.
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2958-2968 , 2022
Link:
https://doi.org/10.1002/..
?
6
Cardiovascular Involvement in Pediatric FLNC Variants: A Ca..:
Baban, Anwar
;
Alesi, Viola
;
Magliozzi, Monia
...
Journal of Cardiovascular Development and Disease. 9 (2022) 10 - p. 332 , 2022
Link:
https://doi.org/10.3390/..
?
7
A Complex Genomic Rearrangement Resulting in Loss of Functi..:
Orlando, Valeria
;
Di Tommaso, Silvia
;
Alesi, Viola
...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 12900 , 2022
Link:
https://doi.org/10.3390/..
?
8
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Gro..:
Alesi, Viola
;
Dentici, Maria Lisa
;
Genovese, Silvia
...
International Journal of Molecular Sciences. 22 (2021) 2 - p. 750 , 2021
Link:
https://doi.org/10.3390/..
?
9
TSPEAR variants are primarily associated with ectodermal dy..:
Bowles, Bradley
;
Ferrer, Alejandro
;
Nishimura, Carla J.
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2417-2433 , 2021
Link:
https://doi.org/10.1002/..
?
10
Expression profiles of the SARS-CoV-2 host invasion genes i..:
Amati, Francesca
;
Vancheri, Chiara
;
Latini, Andrea
...
Heliyon. 6 (2020) 10 - p. e05143 , 2020
Link:
https://doi.org/10.1016/..
?
11
PPP1R21‐related syndromic intellectual disability: Report o..:
Loddo, Sara
;
Alesi, Viola
;
Radio, Francesca Clementina
...
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 3014-3022 , 2020
Link:
https://doi.org/10.1002/..
?
12
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplication..:
Paduano, Francesco
;
Colao, Emma
;
Loddo, Sara
...
Genes. 11 (2020) 5 - p. 525 , 2020
Link:
https://doi.org/10.3390/..
?
13
Autism and severe clinical phenotype in a patient with 8p21..:
Arghir, Aurora
;
Papuc, Sorina Mihaela
;
Tutulan‐Cunita, Andreea‐Cristina
...
Clinical Case Reports. 9 (2020) 1 - p. 314-321 , 2020
Link:
https://doi.org/10.1002/..
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14
Further delineation of the neurodevelopmental phenotypic sp..:
Pascolini, Giulia
;
Agolini, Emanuele
;
Fleischer, Nicole
...
Neurological Sciences. 41 (2020) 12 - p. 3751-3753 , 2020
Link:
https://doi.org/10.1007/..
?
15
Atypical 7q11.23 deletions excluding ELN gene result in Wil..:
Alesi, Viola
;
Loddo, Sara
;
Orlando, Valeria
...
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 242-249 , 2020
Link:
https://doi.org/10.1002/..
1-15