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Bonaglia, Maria Clara
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Online (75)
Mediatypes
Articles (Online) (46)
OpenAccess-fulltext (29)
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1
Further evidence supporting the role of GTDC1 in glycine me..:
Errichiello, Edoardo
;
Lecca, Mauro
;
Vantaggiato, Chiara
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
2
Trait − driven analysis of the 2p15p16.1 microdeletion synd..:
Miceli, Martina
;
Failla, Pinella
;
Saccuzzo, Lucia
...
Genes & Genomics. 45 (2023) 4 - p. 491-505 , 2023
Link:
https://doi.org/10.1007/..
?
3
Case Report: Decrypting an interchromosomal insertion assoc..:
Bonaglia, Maria Clara
;
Salvo, Eliana
;
Sironi, Manuela
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Partial trisomy 21 with or without highlyrestricted Down sy..:
Pelleri, Maria Chiara
;
Locatelli, Chiara
;
Mattina, Teresa
...
BMC Medical Genomics. 15 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
5
The embryo battle against adverse genomes: Are de novo term..:
Zuffardi, Orsetta
;
Fichera, Marco
;
Bonaglia, Maria Clara
European Journal of Medical Genetics. 65 (2022) 8 - p. 104532 , 2022
Link:
https://doi.org/10.1016/..
?
6
Low-level complex mosaic with multiple cell lines affecting..:
Bonaglia, Maria Clara
;
Fichera, Marco
;
Marelli, Susan
..
European Journal of Medical Genetics. 65 (2022) 11 - p. 104596 , 2022
Link:
https://doi.org/10.1016/..
?
7
Long‐term follow‐up in a cohort of children with isolated c..:
Romaniello, Romina
;
Arrigoni, Filippo
;
De Salvo, Patrizia
...
Annals of Clinical and Translational Neurology. 8 (2021) 12 - p. 2280-2288 , 2021
Link:
https://doi.org/10.1002/..
?
8
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis U..:
D'Abrusco, Fulvio
;
Arrigoni, Filippo
;
Serpieri, Valentina
...
The Cerebellum. 21 (2021) 6 - p. 1144-1150 , 2021
Link:
https://doi.org/10.1007/..
?
9
Targeted next-generation sequencing identifies the disrupti..:
Bonaglia, Maria Clara
;
Bertuzzo, Sara
;
Ciaschini, Anna Maria
...
Molecular Cytogenetics. 13 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
10
Small supernumerary marker chromosomes: A legacy of trisomy..:
Kurtas, Nehir Edibe
;
Xumerle, Luciano
;
Leonardelli, Lorena
...
Human Mutation. 40 (2018) 2 - p. 193-200 , 2018
Link:
https://doi.org/10.1002/..
?
11
De novo unbalanced translocations have a complex history/ae..:
Bonaglia, Maria Clara
;
Kurtas, Nehir Edibe
;
Errichiello, Edoardo
...
Human Genetics. 137 (2018) 10 - p. 817-829 , 2018
Link:
https://doi.org/10.1007/..
?
12
Refinement of the critical 7p22.1 deletion region: Haploins..:
Palumbo, Orazio
;
Accadia, Maria
;
Palumbo, Pietro
...
European Journal of Medical Genetics. 61 (2018) 5 - p. 248-252 , 2018
Link:
https://doi.org/10.1016/..
?
13
Role of mycotoxins in the pathobiology of autism: A first e..:
De Santis, Barbara
;
Brera, Carlo
;
Mezzelani, Alessandra
...
Nutritional Neuroscience. 22 (2017) 2 - p. 132-144 , 2017
Link:
https://doi.org/10.1080/..
?
14
Partial deletion of DEPDC5 in a child with focal epilepsy:
Bonaglia, Maria Clara
;
Giorda, Roberto
;
Epifanio, Roberta
...
Epilepsia Open. 1 (2016) 3-4 - p. 140-144 , 2016
Link:
https://doi.org/10.1002/..
?
15
Long-term follow-up of a patient with 5q31.3 microdeletion ..:
Bonaglia, Maria Clara
;
Zanotta, Nicoletta
;
Giorda, Roberto
..
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
1-15