Entropic Uncertainty Relations in Quantum Physics

Uncertainty relations have become the trademark of quantum theory since they were formulated by Bohr and Heisenberg. This review covers various generalizations and extensions of the uncertainty relations in quantum theory that involve the R\'enyi and the Shannon entropies. The advantages of these entropic uncertainty relations are pointed out and their more direct connection to the observed phenomena is emphasized. Several remaining open problems are mentionedComment: 35 pages, review pape

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD

Etude comparative de la cycloplégie en gouttes et en spray

info:eu-repo/semantics/nonPublishe

Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22

SCOPUS: le.jinfo:eu-repo/semantics/publishe

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Contains fulltext : 208821.pdf (publisher's version ) (Open Access