E-LIB Suche - Ergebnisse für: Torella, Annalaura

1

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. , 2024

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

2

Biallelic loss-of-function variants of SLC12A9 cause lysoso..:

Accogli, Andrea ; Park, Young N. ; Lenk, Guy M....
Genetics in Medicine. 26 (2024) 5 - p. 101097 , 2024

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

3

Loss of function and reduced levels of sphingolipid desatur..:

Dei Cas, Michele ; Montavoci, Linda ; Pasini, Claudia...
Journal of Lipid Research. 65 (2024) 3 - p. 100517 , 2024

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

4

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine. 26 (2024) 4 - p. 101057 , 2024

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

5

DAG1 haploinsufficiency is associated with sporadic and fam..:

Traverso, Monica ; Baratto, Serena ; Iacomino, Michele...
European Journal of Human Genetics. , 2024

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

6

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

7

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle..:

Torella, Annalaura ; Budillon, Alberto ; Zanobio, Mariateresa...
International Journal of Molecular Sciences. 24 (2023) 11 - p. 9241 , 2023

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

8

A new genetic cause of spastic ataxia: the p.Glu415Lys vari..:

Torella, Annalaura ; Ricca, Ivana ; Piluso, Giulio...
Journal of Neurology. 270 (2023) 10 - p. 5057-5063 , 2023

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

9

De novo missense variants in phosphatidylinositol kinase PI..:

Morleo, Manuela ; Venditti, Rossella ; Theodorou, Evangelos...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023

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

10

RagD auto-activating mutations impair MiT/TFE activity in k..:

Sambri, Irene ; Ferniani, Marco ; Campostrini, Giulia...
Nature Communications. 14 (2023) 1 - p. , 2023

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

11

Streptozotocin-Induced Type 1 and 2 Diabetes Mellitus Mouse..:

Marino, Fabiola ; Salerno, Nadia ; Scalise, Mariangela...
International Journal of Molecular Sciences. 24 (2023) 2 - p. 1132 , 2023

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

12

Spectrum of Genetic Variants in the Dystrophin Gene: A Sing..:

Viggiano, Emanuela ; Picillo, Esther ; Passamano, Luigia...
Genes. 14 (2023) 1 - p. 214 , 2023

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

13

Next-Generation Sequencing (NGS) Analysis Illustrates the P..:

Zacchia, Miriam ; Capolongo, Giovanna ; Del Vecchio Blanco, Francesca...
Genes. 14 (2023) 3 - p. 764 , 2023

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

14

A novel in‐frame deletion in MYOT causes an early adult ons..:

Guglielmi, Valeria ; Pancheri, Elia ; Cannone, Elena...
Clinical Genetics. 104 (2023) 6 - p. 705-710 , 2023

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

15

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, e..:

Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A....
Genetics in Medicine. 25 (2023) 2 - p. 100323 , 2023

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