Detalhe da pesquisa
1.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412861
2.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Ann Neurol
; 90(5): 738-750, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564892
3.
Therapeutic Genome Editing and its Potential Enhancement through CRISPR Guide RNA and Cas9 Modifications.
Pediatr Endocrinol Rev
; 14(4): 353-363, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28613045
4.
Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings.
Pediatr Endocrinol Rev
; 13(1): 448-54, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26540760
5.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
6.
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.
medRxiv
; 2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292950