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1.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med
; 25(1): 125-134, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36350326
2.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37454282
3.
Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.
Gut
; 2023 Dec 13.
Article
in English
| MEDLINE | ID: mdl-38124012
4.
Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data.
Mol Genet Metab Rep
; 38: 101053, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38469086
5.
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.
Biochim Biophys Acta Mol Basis Dis
; 1868(4): 166338, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-35007711
6.
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.
Mol Genet Metab Rep
; 25: 100681, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33294374
7.
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Nutrients
; 11(10)2019 Sep 25.
Article
in English
| MEDLINE | ID: mdl-31557950
8.
ATR-p53 restricts homologous recombination in response to replicative stress but does not limit DNA interstrand crosslink repair in lung cancer cells.
PLoS One
; 6(8): e23053, 2011.
Article
in English
| MEDLINE | ID: mdl-21857991
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