E-LIB Suche - Ergebnisse für: Scala, Marcello

1

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/..

2

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/..

3

Surgical revascularization as a procedure to prevent neurol..:

Morello, Alberto ; Scala, Marcello ; Schiavetti, Irene...
Child's Nervous System. 40 (2024) 6 - p. 1731-1741 , 2024

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

4

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications. 15 (2024) 1 - p. , 2024

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

5

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/..

6

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/..

7

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1206-1221 , 2024

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

8

Expanding the phenotype of UPF3B‐related disorder: Case rep..:

Romano, Ferruccio ; Haanpää, Maria K. ; Pomianowski, Pawel...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

9

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

10

Truncating variants in PAPSS2 gene: A cause of early prenat..:

Biancotto, Giulia ; Rosti, Giulia ; Madia, Francesca...
Prenatal Diagnosis. , 2024

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

11

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/..

12

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

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

13

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/..

14

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023

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

15

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric..:

Ognibene, Marzia ; Scala, Marcello ; Iacomino, Michele...
Cancers. 15 (2023) 6 - p. 1916 , 2023

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