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Johanna C. Moolman-Smook

Stellenbosch University

84

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Cardiac myosin binding protein C, adrenergic stimulation and cardiac contractility

2017 The Egyptian Heart Journal
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MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients

2016 Human Genetics
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Pathologic grooming (acne excoriee, trichotillomania, and nail biting) in 4 generations of a single family

2016 JAAD case reports
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Ascribing novel functions to the sarcomeric protein, myosin binding protein H (MyBPH) in cardiac sarcomere contraction

2015 Experimental Cell Research
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Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

2015 Cardiovascular Journal of Africa
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MT-CYBmutations in hypertrophic cardiomyopathy

2013 Molecular Genetics & Genomic Medicine
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Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population

2013 PLOS ONE
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Feline Hypertrophic Cardiomyopathy Associated with the p.A31P Mutation in cMyBP-C Is Caused by Production of Mutated cMyBP-C with Reduced Binding to Actin

2013 Open Journal of Veterinary Medicine
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MT-CYB mutations in hypertrophic cardiomyopathy

2013 Molecular Genetics & Genomic Medicine
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A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

2012 Biochemistry Research International
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