Objective. Rheumatoid arthritis (RA) that is negative for anticitrullinated protein antibodies (ACPA)
is a subentity of RA, characterized by less severe disease. At the individual level, …

Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationic I
h current in neurons and regulate the excitability of neuronal networks. Studies in rat models …

Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …

Background Microdeletion syndromes are generally identified because they usually give rise
to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs…

Background Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at
the subtelomere regions of chromosomes; each kit consists of one probe for each …

… However, another study, in a single patient, showed that a lossof-function mutation in
SCN8A can also be causative of epilepsy (De Kovel et al., 2014). Additionally, the channel has …

… This article is dedicated to the memory of Caroline DeLuca, who inspired this project. We
thank Gabriele Schuster for the ES cell work and blastocyst injection, Corinne Spencer and …

… by Spark’s other hybrid-convert characters, from Caroline Rose’s antipathy towards her fellow
… : The Comforters itself turns out to be the novel Caroline is writing, The Abbess of Crewe is …

Copy number variation (CNV) analysis has had a major impact on the field of medical
genetics, providing a mechanism to identify disease-causing genomic alterations in an …