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GIORGIO, ELISA
3187
results:
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Online (3187)
Mediatypes
E-Books (1)
Articles (Online) (1274)
Bookchapter (Online) (29)
OpenAccess-fulltext (1883)
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english (2917)
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1
The impact of clinical genome sequencing in a global popula..:
Thorpe, Erin
;
Williams, Taylor
;
Shaw, Chad
...
The American Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1016/..
?
2
DNA methylation analysis in patients with neurodevelopmenta..:
Trajkova, Slavica
;
Kerkhof, Jennifer
;
Rossi Sebastiano, Matteo
...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100309 , 2024
Link:
https://doi.org/10.1016/..
?
3
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/..
?
4
Understanding the Ultra-Rare Disease Autosomal Dominant Leu..:
Neri, Irene
;
Ramazzotti, Giulia
;
Mongiorgi, Sara
...
Molecular Neurobiology. 60 (2023) 11 - p. 6362-6372 , 2023
Link:
https://doi.org/10.1007/..
?
5
Enhancer hijacking at the ARHGAP36 locus is associated with..:
Melo, Uirá Souto
;
Jatzlau, Jerome
;
Prada-Medina, Cesar A.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
6
Marked intrafamilial variability of clinical and neuroimagi..:
Gana, Simone
;
Serpieri, Valentina
;
Giorgio, Elisa
...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1395-1400 , 2023
Link:
https://doi.org/10.1002/..
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7
Lamin B1 as a key modulator of the developing and aging bra..:
Koufi, Foteini-Dionysia
;
Neri, Irene
;
Ramazzotti, Giulia
...
Frontiers in Cellular Neuroscience. 17 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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8
Are gait kinematics and muscle activity influenced by mosai..:
Spolaor, Fabiola
;
Guiotto, Annamaria
;
Weronika, Piatkowska
...
Gait & Posture. 106 (2023) - p. S181-S182 , 2023
Link:
https://doi.org/10.1016/..
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9
RNA therapeutics for neurological diseases:
Brentari, Ilaria
;
Zadorozhna, Mariia
;
Denti, Michela Alessandra
.
British Medical Bulletin. 147 (2023) 1 - p. 50-61 , 2023
Link:
https://doi.org/10.1093/..
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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/..
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11
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/..
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12
Author Correction: Enhancer hijacking at the ARHGAP36 locus..:
Melo, Uirá Souto
;
Jatzlau, Jerome
;
Prada-Medina, Cesar A.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
13
Analysis of the DNA methylation pattern of the promoter reg..:
Rubino, Elisa
;
Boschi, Silvia
;
Giorgio, Elisa
...
Neurobiology of Pain. 11 (2022) - p. 100089 , 2022
Link:
https://doi.org/10.1016/..
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14
Biallelic mutations in PSMC3IP are associated with secondar..:
Sirchia, Fabio
;
Giorgio, Elisa
;
Cucinella, Laura
..
Journal of Assisted Reproduction and Genetics. 39 (2022) 5 - p. 1177-1181 , 2022
Link:
https://doi.org/10.1007/..
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15
HeterozygousNOTCH1Variants CauseCNSImmune Activation and Mi..:
Helman, Guy
;
Zarekiani, Parand
;
Tromp, Samantha A.M.
...
Annals of Neurology. 92 (2022) 5 - p. 895-901 , 2022
Link:
https://doi.org/10.1002/..
1-15