E-LIB Suche - Ergebnisse für: Di Giorgio, Elisa

1

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/..

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

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

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/..

14

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/..

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/..