Source: Neth Heart JEuropean Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart 2023, ' The arrhythmogenic cardiomyopathy phenotype associated with PKP2

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Development of tools to facilitate the diagnosis of hereditary fructose intolerance

Authors : Panis, B.; Janssen, L.E.F.; Lefeber, D.J.

Subjects: 2. Zero hunger; food diary; glycosylation of transferrin

Source: JIMD RepJIMD Reports, Vol 64, Iss 5, Pp 353-359 (2023)Jimd Reports, 64, 5, pp. 353-359

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Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Authors : Mark Jansen; A. F. Schmidt; J. J. M. Jans ...

Subjects: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; Pharmaceutical Science; Hypertrophic Cardiomyopathy

Source: J Cardiovasc Transl ResJansen, M, Schmidt, A F, Jans, J J M, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Lekanne Deprez, R H, Wilde, A A M,

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CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

Authors : Afanasyeva, T.A.V.; Athanasiou, D.; Perdigao, P.R.L.

Subjects: LCA5; QH573-671; Radboudumc 11: Renal disorders Human Genetics

Source: Mol Ther Methods Clin DevMolecular Therapy: Methods & Clinical Development, Vol 29, Iss, Pp 522-531 (2023)Molecular Therapy. Methods & Clinical Development, 29, pp. 522-531

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Authors : Gehin, C.; Lone, M.A.; Lee, W. ...

Subjects: TRANSPORT PROTEIN CERT; Neurodevelopment; Homeòstasi

Source: J Clin InvestThe Journal of Clinical Investigation, Vol 133, Iss 10 (2023)Journal of Clinical Investigation, 133, 10Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura;

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KBTBD13 is a novel cardiomyopathy gene

Authors : Winter, J.M.; Bouman, K.; Strom, J. ...

Subjects: Muscle Proteins; Ventricular Function, Left; Mice

Source: Hum Mutatde Winter, J M, Bouman, K, Strom, J, Methawasin, M, Jongbloed, J D H, van der Roest, W, Wijngaarden, J V, Timmermans, J, Nijveldt, R, van den Heuvel, F, Kamsteeg, E-J, van Engelen, B G,

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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Genetic characterization of primary lateral sclerosis

The role of laboratory investigations in the classification of tremors

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

Development of tools to facilitate the diagnosis of hereditary fructose intolerance

Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

KBTBD13 is a novel cardiomyopathy gene

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