| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
|
Giuili, Edoardo
|
|
|
142 |
12 |
p. 1721-1735
|
article
|
| 2 |
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
|
Zeng, Shujun
|
|
|
142 |
12 |
p. 1677-1703
|
article
|
| 3 |
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
|
Felício, Daniela
|
|
|
142 |
12 |
p. 1651-1676
|
article
|
| 4 |
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
|
Xiao, Feifan
|
|
|
142 |
12 |
p. 1737-1745
|
article
|
| 5 |
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
|
Singh, Meghna
|
|
|
142 |
12 |
p. 1705-1720
|
article
|
| 6 |
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
|
Martins, Sandra
|
|
|
142 |
12 |
p. 1747-1754
|
article
|
| 7 |
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
|
Tokatly Latzer, Itay
|
|
|
142 |
12 |
p. 1755-1776
|
article
|
| 8 |
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation
|
Wang, Shiyi
|
|
|
142 |
12 |
p. 1633-1649
|
article
|
Journal description