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Mastromoro, Gioia
56
results:
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Online (56)
Mediatypes
Articles (Online) (29)
OpenAccess-fulltext (27)
Sorted by: Year
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1
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) ..:
Marchionni, Enrica
;
Guadagnolo, Daniele
;
Mastromoro, Gioia
.
European Journal of Human Genetics. 32 (2024) 7 - p. 759-769 , 2024
Link:
https://doi.org/10.1038/..
?
2
PrenatalCFAP53-related laterality defect: case report and r..:
Mastromoro, Gioia
;
Guadagnolo, Daniele
;
Novelli, Antonio
...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1080/..
?
3
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:
Guadagnolo, Daniele
;
Mastromoro, Gioia
;
Marchionni, Enrica
...
Biomedicines. 11 (2023) 7 - p. 2062 , 2023
Link:
https://doi.org/10.3390/..
?
4
Correspondence to "Dichorionic Diamniotic Twin Pairs with C..:
Mastromoro, Gioia
;
Piacentini, Gerardo
Pediatric Cardiology. 45 (2023) 2 - p. 454-454 , 2023
Link:
https://doi.org/10.1007/..
?
5
Mosaic genome‐wide paternal uniparental disomy after discor..:
Mastromoro, Gioia
;
Guadagnolo, Daniele
;
Marchionni, Enrica
...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 1101-1106 , 2023
Link:
https://doi.org/10.1002/..
?
6
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/..
?
7
Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:
Guadagnolo, Daniele
;
Mastromoro, Gioia
;
Torres, Barbara
...
Genes. 14 (2023) 12 - p. 2157 , 2023
Link:
https://doi.org/10.3390/..
?
8
Cardiac function in adolescents and young adults with 22q11..:
Putotto, Carolina
;
Unolt, Marta
;
Lambiase, Caterina
...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104651 , 2023
Link:
https://doi.org/10.1016/..
?
9
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer'..:
Squitti, Rosanna
;
Catalli, Claudio
;
Gigante, Laura
...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6377 , 2023
Link:
https://doi.org/10.3390/..
?
10
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer'..:
Rosanna Squitti
;
Claudio Catalli
;
Laura Gigante
...
https://www.mdpi.com/1422-0067/24/7/6377. , 2023
Link:
https://doi.org/10.3390/..
?
11
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer'..:
Squitti, Rosanna
;
Catalli, Claudio
;
Gigante, Laura
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094789/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer'..:
Rosanna Squitti
;
Claudio Catalli
;
Laura Gigante
...
Molecular Pathology, Diagnostics, and Therapeutics. , 2023
Link:
https://doi.org/10.3390/..
?
13
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:
Daniele Guadagnolo
;
Gioia Mastromoro
;
Enrica Marchionni
...
https://www.mdpi.com/2227-9059/11/7/2062. , 2023
Link:
https://doi.org/10.3390/..
?
14
Duplication at 19q13.32q13.33 Segregating with Neuropsychia..:
Daniele Guadagnolo
;
Gioia Mastromoro
;
Barbara Torres
...
https://www.mdpi.com/2073-4425/14/12/2157. , 2023
Link:
https://doi.org/10.3390/..
?
15
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:
Daniele Guadagnolo
;
Gioia Mastromoro
;
Enrica Marchionni
...
info:eu-repo/semantics/altIdentifier/pmid/37509701. , 2023
Link:
https://hdl.handle.net/1..
1-15
