Search details
1.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Am J Hum Genet
; 109(5): 961-966, 2022 05 05.
Article
in English
| MEDLINE | ID: mdl-35397206
2.
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.
Circulation
; 146(22): 1674-1693, 2022 11 29.
Article
in English
| MEDLINE | ID: mdl-36321451
3.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Hum Mutat
; 39(6): 870-881, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29527824
4.
Robust identification of mosaic variants in congenital heart disease.
Hum Genet
; 137(2): 183-193, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29417219
5.
Differential Potency of 2,6-Dimethylcyclohexanol Isomers for Positive Modulation of GABAA Receptor Currents.
J Pharmacol Exp Ther
; 357(3): 570-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27029583
6.
Association between Multiple Myeloma and Ulcerative Colitis: A Cross-Sectional Analysis.
Diseases
; 11(2)2023 Apr 06.
Article
in English
| MEDLINE | ID: mdl-37092441
7.
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Circ Genom Precis Med
; 16(3): 224-231, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37165897
8.
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Genome Med
; 12(1): 42, 2020 04 29.
Article
in English
| MEDLINE | ID: mdl-32349777
9.
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.
Sci Transl Med
; 11(476)2019 01 23.
Article
in English
| MEDLINE | ID: mdl-30674652
10.
Droplet Digital PCR with EvaGreen Assay: Confirmational Analysis of Structural Variants.
Curr Protoc Hum Genet
; 97(1): e58, 2018 04.
Article
in English
| MEDLINE | ID: mdl-30040209
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