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1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36669495
2.
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Eur J Hum Genet
; 29(12): 1789-1795, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34426662
3.
Sex differences in atherosclerosis in mice with elevated phospholipid transfer protein activity are related to decreased plasma high density lipoproteins and not to increased production of triglycerides.
Biochim Biophys Acta
; 1761(9): 1070-7, 2006 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16935026
4.
Elevation of plasma phospholipid transfer protein increases the risk of atherosclerosis despite lower apolipoprotein B-containing lipoproteins.
J Lipid Res
; 45(5): 805-11, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-14993244
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