Precision medicine is part of the logical evolution of contemporary evidence-based medicine
that seeks to reduce errors and optimize outcomes when making medical decisions and …

… The presence of tissue specific promoters allows differential regulation and transcription of
different transcripts giving rise to three different sized exon 1 (a,b,c); the upstream promoter is …

… Focal form (A, B, C): PET-scan localizes accurately the focal lesion. A: Anterior view of a 3
… silencing of the rest of the pancreatic tissue (C: Transversal PET imaging). In a suspected …

Neuroimaging and management advances require review of indications for excluding cerebral
venous sinus (sinovenous) thrombosis (CSVT) in children. Our goals were to examine (i) …

… of the corpus callosum (sCC and gCC), the cingulum (Cg), (B) the fornix (Fx), the inferior
fronto-occipital fasciculus (IFO), the superior longitudinal fasciculus (SLF), a frontal U-fiber, (C) …

… Analysis of the parents of three patients revealed that the c.1-52589T→… Neither this
variant nor another SCN1A variant was found in three patients with Rasmussen syndrome (C …

… ), which are identical at the 5′ end but HNF1A(B) is truncated within exon 6 while HNF1A(C)
terminates in exon 7 [Bach and Yaniv, 1993]. Similarly, the HNF4A gene encodes a total of …

… G→A and c.965-2 A→C), two exonic deletions of one base pair (c.3878delA and c.5493delT),
one whole gene deletion, and nine missense mutations (p.Ile124Asn, p.…

No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been
identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb …

Background Congenital hyperinsulinism (CHI) is characterised by an over secretion of
insulin by the pancreatic β-cells. This condition is mostly caused by mutations in ABCC8 or …