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Sirchia, Fabio
98
results:
Search for persons
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Online (98)
Mediatypes
Articles (Online) (48)
Bookchapter (Online) (1)
OpenAccess-fulltext (49)
Sorted by: Relevance
Sorted by: Year
?
1
Variant-specific pathophysiological mechanisms of AFF3 diff..:
Bassani, Sissy
;
Chrast, Jacqueline
;
Ambrosini, Giovanna
...
Genome Medicine. 16 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
2
Interface Gain-of-Function Mutations in TLR7 Cause Systemic..:
David, Clémence
;
Badonyi, Mihaly
;
Kechiche, Robin
...
Journal of Clinical Immunology. 44 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1007/..
?
3
Early Developmental Intervention and Enriched Environment i..:
Perinelli, Martina Giorgia
;
Naboni, Cecilia
;
Balagura, Ganna
...
Neurology Clinical Practice. 14 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1212/..
?
4
The impact of clinical genome sequencing in a global popula..:
Thorpe, Erin
;
Williams, Taylor
;
Shaw, Chad
...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1271-1281 , 2024
Link:
https://doi.org/10.1016/..
?
5
Mismatch repair deficiency in multifocal gastric epithelial..:
Vanoli, Alessandro
;
Lenti, Marco Vincenzo
;
Sirchia, Fabio
.
Digestive and Liver Disease. 56 (2024) 4 - p. 711-712 , 2024
Link:
https://doi.org/10.1016/..
?
6
Novel molecular, structural and clinical findings in an Ita..:
Lecca, Mauro
;
Mauri, Lucia
;
Gana, Simone
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
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7
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A..:
Trevisan, Valentina
;
Meroni, Anna
;
Leoni, Chiara
...
Genes. 15 (2024) 3 - p. 346 , 2024
Link:
https://doi.org/10.3390/..
?
8
O38: The impact of whole genome sequencing in a diverse glo..:
Taft, Ryan
;
Thorpe, Erin
;
Belmont, John
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100464 , 2023
Link:
https://doi.org/10.1016/..
?
9
Expanding the phenotype of Brunner syndrome from childhood ..:
Minniti, Maria Letizia
;
Kalantari, Silvia
;
Pasca, Ludovica
...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 82-87 , 2023
Link:
https://doi.org/10.1002/..
?
10
De novo RANBP2 variant in a fetal demise case with cerebral..:
Meroni, Anna
;
Kalantari, Silvia
;
Arossa, Alessia
...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1973-1977 , 2023
Link:
https://doi.org/10.1002/..
?
11
Expanding the Natural History of SNORD118-Related Ribosomop..:
Politano, Davide
;
Catalano, Guido
;
Pezzotti, Elena
...
Genes. 14 (2023) 9 - p. 1817 , 2023
Link:
https://doi.org/10.3390/..
?
12
Obliterated cavum septi pellucidi: is it always a benign fi..:
Fantasia, Ilaria
;
Faletra, Flavio
;
Bussani, Rossana
...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 2 - p. , 2023
Link:
https://doi.org/10.1080/..
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13
KIRREL3-related disorders: a case report confirming the rad..:
Querzani, Andrea
;
Sirchia, Fabio
;
Rustioni, Gianluca
...
Italian Journal of Pediatrics. 49 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
14
The Usefulness of a Targeted Next Generation Sequencing Gen..:
Mellone, Simona
;
Puricelli, Chiara
;
Vurchio, Denise
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
15
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immuno..:
Fiandrino, Giacomo
;
Arossa, Alessia
;
Ghirardello, Stefano
...
Placenta. 126 (2022) - p. 119-124 , 2022
Link:
https://doi.org/10.1016/..
1-15