Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations
in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis…

A partial deletion of chromosome band 2p25.3 (2pter) is a rarely described cytogenetic
aberration in patients with intellectual disability (ID). Using microarrays we identified deletions of …

ATP2B2 encodes the PMCA2 Ca 2+ pump that plays an important role in maintaining ion
homeostasis in hair cells among others by extrusion of Ca 2+ from the stereocilia to the …

… continued support, we are displaying the site without styles and JavaScript. … Klein
Wassink-Ruiter … Silverman JS, Skaar JR, Pagano M. SCF ubiquitin ligases in the maintenance of …

Polyamines serve a number of vital functions in humans, including regulation of cellular
proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (…

Purpose Lamb–Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in
just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene …

Purpose MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA
polymerase II transcription and regulation of cell growth, development, and differentiation. …

Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and
polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various …

Objectives: Clefts of the lip, alveolus and/or palate (CLA/P) are the most common craniofacial
congenital malformations in humans. These oral clefts can be divided into non-syndromic (…

Hepatocyte nuclear factor 1A (HNF1A) maturity‐onset diabetes of the young (MODY) is a
monogenetic, autosomal dominantly inherited form of diabetes. HNF1A‐MODY is associated …