Detalhe da pesquisa
1.
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Cells
; 13(7)2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38607040
2.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Int J Neonatal Screen
; 10(1)2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38535124
3.
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Am J Hum Genet
; 86(1): 72-6, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20004881
4.
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.
Stem Cell Res
; 71: 103169, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37480818
5.
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.
Stem Cell Res
; 71: 103164, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37441824
6.
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.
Stem Cell Res
; 73: 103252, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37979432
7.
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.
Eur J Hum Genet
; 31(1): 81-88, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36114283
8.
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
PLoS One
; 17(4): e0266493, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35390071
9.
A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.
Case Rep Genet
; 2014: 530134, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24800088