Beals‐Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal
dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, …

… The generation of an extremely reactive n radical cation that reacts with neighbouring pyrrole
species produces a polymer that is predominantly a,a’-c~upled,~ although some branching …

… Reagentless glucose electrodes have been generated by the synthesis of N-substltuted …
and was obtained in an overall yield of 24% from N- (2-cyanoethyl)pyrrole and characterized by …

Concerns about the safety of carbimazole in pregnancy were raised in 1985 [Milham ( 1985
): Teratology 32:321]. Since this time many reports of children believed to have been …

Background: Recurrent 15q13.3 microdeletions were recently identified with identical
proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental …

… Among the remaining 28 cases without a 19q microdeletion, we performed either whole-exome
(n = 6) or whole-genome (n = 9) sequencing in 15 cases (Online Methods). We identified …

… A comparison of methylation profiles in patients with SETD1A variants (n = 6) did not reveal
… differences between patients with truncating mutations (n = 4, Luscan-Lumish syndrome; MIM…

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

Background: The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised
by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In …

… We estimated the probability of sampling n probands from … to a null distribution of n probands
sampled randomly from … the genome we can annotate (n = 17,370) under two models (…