Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.
medRxiv
; 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034709
3.
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
J Clin Invest
; 133(7)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795492
4.
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.
medRxiv
; 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37425688
5.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
medRxiv
; 2023 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328047