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Di Muro, Ester
41
results:
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Online (41)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (30)
Sorted by: Relevance
Sorted by: Year
?
1
Association of CSF and PET markers of neurodegeneration wit..:
d'Orsi, Giuseppe
;
Farolfi, Andrea
;
Muccioli, Lorenzo
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
2
Identification of a Novel FOXP1 Variant in a Patient with H..:
Benvenuto, Mario
;
Palumbo, Pietro
;
Di Muro, Ester
...
Genes. 14 (2023) 10 - p. 1958 , 2023
Link:
https://doi.org/10.3390/..
?
3
Novel STAG1 Frameshift Mutation in a Patient Affected by a ..:
Di Muro, Ester
;
Palumbo, Pietro
;
Benvenuto, Mario
...
Genes. 12 (2021) 8 - p. 1116 , 2021
Link:
https://doi.org/10.3390/..
?
4
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Delet..:
Palumbo, Pietro
;
Di Muro, Ester
;
Accadia, Maria
...
Genes. 12 (2021) 2 - p. 229 , 2021
Link:
https://doi.org/10.3390/..
?
5
A Private 16q24.2q24.3 Microduplication in a Boy with Intel..:
Palumbo, Orazio
;
Palumbo, Pietro
;
Di Muro, Ester
...
Genes. 11 (2020) 6 - p. 707 , 2020
Link:
https://doi.org/10.3390/..
?
6
The presenting symptoms of Lafora Disease: An electroclinic..:
d'Orsi, Giuseppe
;
Lalla, Alessandra
;
Palumbo, Orazio
...
Seizure. 83 (2020) - p. 145-153 , 2020
Link:
https://doi.org/10.1016/..
?
7
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in ..:
Leone, Maria Pia
;
Palumbo, Pietro
;
Palumbo, Orazio
...
Italian Journal of Pediatrics. 46 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
8
Compound Phenotype Due to Recessive Variants in LARP7 and O..:
Palumbo, Pietro
;
Palumbo, Orazio
;
Leone, Maria Pia
...
Genes. 11 (2020) 4 - p. 379 , 2020
Link:
https://doi.org/10.3390/..
?
9
Association of CSF and PET markers of neurodegeneration wit..:
d'Orsi, Giuseppe
;
Farolfi, Andrea
;
Muccioli, Lorenzo
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337130/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
10
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Delet..:
Palumbo, Pietro
;
Di Muro, Ester
;
Accadia, Maria
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915150/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
11
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in ..:
Leone, Maria Pia
;
Palumbo, Pietro
;
Palumbo, Orazio
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254667/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
12
A Private 16q24.2q24.3 Microduplication in a Boy with Intel..:
Palumbo, Orazio
;
Palumbo, Pietro
;
Di Muro, Ester
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349372/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
13
Targeted resequencing as diagnostic tool in patients with e..:
DI MURO, ESTER
alleditors:tutor esterno: Massimo Carella. , 2020
Link:
http://hdl.handle.net/11..
?
14
Compound Phenotype Due to Recessive Variants in LARP7 and O..:
Palumbo, Pietro
;
Palumbo, Orazio
;
Leone, Maria Pia
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230222/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
15
Expanding the clinical and molecular spectrum of psmd12-rel..:
Palumbo, Pietro
;
Palumbo, Orazio
;
Di Muro, Ester
...
volume:03. , 2019
Link:
http://hdl.handle.net/11..
1-15