De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin– S iris syndrome ( CSS ), N icolaides– B araitser syndrome ( NCBRS ), and …

Few seem to have difficulty in distinguishing between religious and secular institutions, yet
there is widespread disagreement regarding what “religion” actually means. Indeed, some go …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

… Informed by pragmatic, post-modern, and feminist theories, Victoria Harrison's study also
makes extensive use of Bishop's archives, many pieces of which have never been discussed, …

We have developed a modular architecture for preparing high-relaxivity multiplexed probes
utilizing click chemistry. Our system incorporates azide bearing Gd(III) chelates and a …

Recent evidence indicates that the brain can remodel after stroke, primarily through
synaptogenesis. Task-specific and repetitive exercise appear to be key factors in promoting …

Multiple imaging modalities are often required for in vivo imaging applications that require
both high probe sensitivity and excellent spatial and temporal resolution. In particular, MR and …

Objective Pathogenic variants in SCN3A, encoding the voltage‐gated sodium channel subunit
Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development…

Neurexin 1 (NRXN1) is a cell adhesion protein, the normal function of which is critical for
effective neurotransmission. It forms a trans‐synaptic complex in the central nervous system …