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Negri, Gloria
78
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Online (78)
Mediatypes
Articles (Online) (33)
OpenAccess-fulltext (45)
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1
Exploring by whole exome sequencing patients with initial d..:
Negri, Gloria
;
Magini, Pamela
;
Milani, Donatella
...
Human Genetics. 138 (2019) 3 - p. 257-269 , 2019
Link:
https://doi.org/10.1007/..
?
2
Rubinstein Taybi Syndrome in an Indian Child due to EP300 G..:
Negri, Gloria
;
Larizza, Lidia
;
Gervasini, Cristina
The Indian Journal of Pediatrics. 84 (2016) 1 - p. 91-92 , 2016
Link:
https://doi.org/10.1007/..
?
3
Viable phenotype of ILNEB syndrome without nephrotic impair..:
Colombo, Elisa Adele
;
Spaccini, Luigina
;
Volpi, Ludovica
...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
?
4
Characterization of 14 novel deletions underlying Rubinstei..:
Rusconi, Daniela
;
Negri, Gloria
;
Colapietro, Patrizia
...
Human Genetics. 134 (2015) 6 - p. 613-626 , 2015
Link:
https://doi.org/10.1007/..
?
5
From Whole Gene Deletion to Point Mutations ofEP300-Positiv..:
Negri, Gloria
;
Magini, Pamela
;
Milani, Donatella
...
Human Mutation. 37 (2015) 2 - p. 175-183 , 2015
Link:
https://doi.org/10.1002/..
?
6
Expanding the role of the splicingUSB1gene from Poikiloderm..:
Negri, Gloria
;
Crescenzi, Barbara
;
Colombo, Elisa Adele
...
British Journal of Haematology. 171 (2015) 4 - p. 557-565 , 2015
Link:
https://doi.org/10.1111/..
?
7
Novel C16orf57 mutations in patients with Poikiloderma with..:
Colombo, Elisa A
;
Bazan, J Fernando
;
Negri, Gloria
...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012
Link:
https://doi.org/10.1186/..
?
8
Further evidence supporting the influence of brain-derived ..:
Mandelli, Laura
;
Mazza, Marianna
;
Martinotti, Giovanni
...
Journal of Psychopharmacology. 24 (2010) 12 - p. 1747-1754 , 2010
Link:
https://doi.org/10.1177/..
?
9
Further evidence supporting the association between 5HTR2C ..:
Mazza, Marianna
;
Mandelli, Laura
;
Martinotti, Giovanni
...
Psychiatry Research. 180 (2010) 2-3 - p. 151-152 , 2010
Link:
https://doi.org/10.1016/..
?
10
Exploring by whole exome sequencing patients with initial d..:
Negri, Gloria
;
Magini, Pamela
;
Milani, Donatella
...
info:eu-repo/semantics/altIdentifier/pmid/30806792. , 2019
Link:
http://hdl.handle.net/10..
?
11
Exploring by whole exome sequencing patients with initial d..:
Negri, Gloria
;
Magini, Pamela
;
Milani, Donatella
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736609/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
12
Viable phenotype of ILNEB syndrome without nephrotic impair..:
Colombo, Elisa
;
Spaccini, Luigina
;
Volpi, Ludovica
...
http://www.ojrd.com/content/11/1/136. , 2016
Link:
http://www.ojrd.com/cont..
?
13
EP300 (E1A binding protein p300):
Negri, Gloria
;
Gervasini, Cristina
Atlas of Genetics and Cytogenetics in Oncology and Haematology. , 2015
Link:
http://hdl.handle.net/20..
?
14
Novel physiological RECQL4 alternative transcript disclosed..:
Colombo, Elisa Adele
;
Fontana, Laura
;
Roversi, Gaia
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200430/. , 2014
Link:
http://www.ncbi.nlm.nih...
?
15
Clinical utility gene card for: poikiloderma with neutropen..:
Larizza, Lidia
;
Negri, Gloria
;
Colombo, Elisa Adele
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013
Link:
http://www.ncbi.nlm.nih...
1-15