E-LIB Suche - Ergebnisse für: Rocca, Clarissa

1

Menopausal Hormone Therapy, an Ever-Present Topic: A Pilot ..:

Aquino, Carmen Imma ; Stampini, Viviana ; Osella, Elena...
Medicina. 60 (2024) 5 - p. 774 , 2024

Link: https://doi.org/10.3390/..

2

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion ..:

Chen, Zhongbo ; Gustavsson, Emil K. ; Macpherson, Hannah...
Movement Disorders. 39 (2024) 3 - p. 486-497 , 2024

Link: https://doi.org/10.1002/..

3

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research. 12 (2024) - p. 1113 , 2024

Link: https://doi.org/10.12688..

4

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

Link: https://doi.org/10.1016/..

5

Human mutations in SLITRK3 implicated in GABAergic synapse ..:

Efthymiou, Stephanie ; Han, Wenyan ; Ilyas, Muhammad...
Frontiers in Molecular Neuroscience. 17 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

6

Extreme phenotypic heterogeneity in non-expansion spinocere..:

Cunha, Paulina ; Petit, Emilien ; Coutelier, Marie...
The American Journal of Human Genetics. 110 (2023) 7 - p. 1098-1109 , 2023

Link: https://doi.org/10.1016/..

7

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

8

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

Expanding SPTAN1 monoallelic variant associated disorders: ..:

Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa...
Genetics in Medicine. 25 (2023) 1 - p. 76-89 , 2023

Link: https://doi.org/10.1016/..

10

Heterozygous UCHL1 loss-of-function variants cause a neurod..:

Park, Joohyun ; Tucci, Arianna ; Cipriani, Valentina...
Genetics in Medicine. 25 (2023) 10 - p. 100961 , 2023

Link: https://doi.org/10.1016/..

11

Repeat expansions in NOP56 are a cause of spinocerebellar a..:

Lam, Tanya ; Rocca, Clarissa ; Ibanez, Kristina...
Brain Communications. 5 (2023) 5 - p. , 2023

Link: https://doi.org/10.1093/..

12

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

13

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine. 25 (2023) 11 - p. 100938 , 2023

Link: https://doi.org/10.1016/..

14

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research. 12 (2023) - p. 1113 , 2023

Link: https://doi.org/10.12688..

15

Genotype–phenotype correlation in contactin-associated prot..:

D'Onofrio, Gianluca ; Accogli, Andrea ; Severino, Mariasavina...
Human Genetics. 142 (2023) 7 - p. 909-925 , 2023

Link: https://doi.org/10.1007/..