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1.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34952832
2.
Targeting Gâ Protein-Coupled Receptors by Capture Compound Mass Spectrometry: A Case Study with Sertindole.
Chembiochem
; 18(16): 1639-1649, 2017 08 17.
Article
in English
| MEDLINE | ID: mdl-28557180
3.
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Eur J Med Genet
; 65(8): 104537, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35690317
4.
Cell cycle-dependent regulation of the forkhead transcription factor FOXK2 by CDK·cyclin complexes.
J Biol Chem
; 285(46): 35728-39, 2010 Nov 12.
Article
in English
| MEDLINE | ID: mdl-20810654
5.
Functional interactions between the Forkhead transcription factor FOXK1 and the MADS-box protein SRF.
Nucleic Acids Res
; 35(15): 5203-12, 2007.
Article
in English
| MEDLINE | ID: mdl-17670796
6.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Eur J Hum Genet
; 26(4): 592-598, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29449720
7.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Eur J Hum Genet
; 25(2): 176-182, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27848944
8.
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Mol Genet Genomic Med
; 3(5): 396-403, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26436105
9.
Dabigatran and dabigatran ethyl ester: potent inhibitors of ribosyldihydronicotinamide dehydrogenase (NQO2).
J Med Chem
; 55(8): 3934-44, 2012 Apr 26.
Article
in English
| MEDLINE | ID: mdl-22494098
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