E-LIB Suche - Ergebnisse für: Flex, Elisabetta

1

RAF1 gene fusions are recurrent driver events in infantile ..:

Motta, Marialetizia ; Barresi, Sabina ; Pizzi, Simone...
The Journal of Pathology. 263 (2024) 2 - p. 166-177 , 2024

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

2

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/..

3

Further case of enlarged spinal nerve roots in KRAS‐related..:

Leoni, Chiara ; Viscogliosi, Germana ; Onesimo, Roberta...
Clinical Genetics. 104 (2023) 1 - p. 136-138 , 2023

Link: https://doi.org/10.1111/..

4

The 8th International RASopathies Symposium: Expanding rese..:

Pierpont, Elizabeth I. ; Bennett, Anton M. ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

5

CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a P..:

Muto, Valentina ; Benigni, Federica ; Magliocca, Valentina...
International Journal of Molecular Sciences. 24 (2023) 9 - p. 7988 , 2023

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

6

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/..

7

Germline bi-allelic SH2B3/LNK alteration predisposes to a n..:

Arfeuille, Chloé ; Vial, Yoann ; Cadenet, Margaux...
Haematologica. , 2023

Link: https://doi.org/10.3324/..

8

GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Pheno..:

Galosi, Serena ; Novelli, Maria ; Di Rocco, Martina...
Movement Disorders. 38 (2023) 12 - p. 2313-2314 , 2023

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

9

Metabolic profiling of Costello syndrome: Insights from a s..:

Leoni, Chiara ; Massese, Miriam ; Gervasoni, Jacopo...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104439 , 2022

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

10

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Le..:

Giuffrida, Maria Grazia ; Goldoni, Marina ; Genovesi, Maria Luce...
Diagnostics. 12 (2022) 10 - p. 2354 , 2022

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

11

Dominantly acting KIF5B variants with pleiotropic cellular ..:

Flex, Elisabetta ; Albadri, Shahad ; Radio, Francesca Clementina...
Human Molecular Genetics. 32 (2022) 3 - p. 473-488 , 2022

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

12

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Cau..:

Flex, Elisabetta ; Imperatore, Valentina ; Carpentieri, Giovanna...
Genes. 12 (2021) 9 - p. 1406 , 2021

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

13

Enlarged spinal nerve roots in RASopathies: Report of two c..:

Leoni, Chiara ; Tedesco, Marta ; Talloa, Dario...
European Journal of Medical Genetics. 64 (2021) 4 - p. 104187 , 2021

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

14

Bone tissue homeostasis and risk of fractures in Costello s..:

Leoni, Chiara ; Bisanti, Cristian ; Viscogliosi, Germana...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 422-430 , 2021

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

15

Characterization of bone homeostasis in individuals affecte..:

Leoni, Chiara ; Viscogliosi, Germana ; Onesimo, Roberta...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 414-421 , 2021

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