Leiden University Scholarly Publications

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The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant
Reclassification of a likely pathogenic Dutch founder variant in KCNH2
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
The Phenotypic Continuum of ATP1A3-Related Disorders
The hemoglobinopathies, molecular disease mechanisms and diagnostics
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Biallelic variants in CENPF causing a phenotype distinct from Stromme syndrome
Adapting the ACMG/AMP variant classification framework
PPA2-associated sudden cardiac death
The evolving role of next-generation sequencing in screening and diagnosis of hemoglobinopathies
Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance