Detalhe da pesquisa
1.
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
J Hepatol
; 79(4): 945-954, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37328071
2.
Synthetic Routes to N-9 Alkylated 8-Oxoguanines; Weak Inhibitors of the Human DNA Glycosylase OGG1.
Molecules
; 20(9): 15944-65, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26364627
3.
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.
Int J Neonatal Screen
; 9(4)2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132826
4.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Front Immunol
; 11: 1417, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32754152
5.
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Int J Neonatal Screen
; 6(3): 51, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33123633
6.
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
JIMD Rep
; 11: 79-85, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23580368