Results 71 to 80 of about 1,090,949 (282)

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Orphanet Journal of Rare Diseases, 2021
Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD.
Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre   +25 more
doaj   +1 more source

Is the Accrual Anomaly a Global Anomaly? [PDF]

SSRN Electronic Journal, 2005
This paper investigates the subsequent return implications of accruals within a sample of large, developed, international equity markets and assesses whether similar institutional features account for the accrual anomaly across countries. I investigate the returns implications of accruals in 17 countries over the 1989 to 2003 time period.
openaire   +2 more sources

Anomalies and Bosonization [PDF]

Communications in Mathematical Physics, 2020
Recently, general methods of bosonization beyond 1+1 dimensions have been developed. In this article, we review these bosonizations and extend them to the case with boundary conditions. In particular, we study the case when the bulk theory is a $G$-symmetry protected topological phase and the boundary theory has a $G$ 't Hooft anomaly.
openaire   +3 more sources

A methionine‐lined active site governs carbocation stabilization and product specificity in a bacterial terpene synthase

FEBS Letters, EarlyView.
This study reveals a unique active site enriched in methionine residues and demonstrates that these residues play a critical role by stabilizing carbocation intermediates through novel sulfur–cation interactions. Structure‐guided mutagenesis further revealed variants with significantly altered product profiles, enhancing pseudopterosin formation. These
Marion Ringel, Carl P. O. Helmer, Shani Zev, Ronja Driller, Emily Buhr, Markus Reinbold, Renana Schwartz, Gabriel Foley, Mikael Boden, Daniel Garbe, Gerhard Schenk, Dan Thomas Major, Bernhard Loll, Thomas Brück   +13 more
wiley   +1 more source

Ultrasound-guided sclerotherapy of pingyangmycin for periorbital lymphatic malformations

BMC Ophthalmology
Background This study investigated the treatment outcomes of ultrasound-guided sclerotherapy with pingyangmycin for periorbital lymphatic malformations (LMs).
Yixiao Li, Liang Wang, Dan Song, Bingxuan Jiao, Jing Li, Jie Zhou, Lei Guo   +6 more
doaj   +1 more source

Anchorage‐independent and faster growth in clonal population from UV‐irradiated NER‐deficient cells

FEBS Open Bio, EarlyView.
UV‐irradiated cells expressing a DDB2 mutant protein unable to interact with PCNA (DDB2PCNA‐) form clones able to grow without anchorage. Different experimental approaches reveal heterogeneity in cell cycle regulation and drug response within these clones, emphasizing the crucial role of the DDB2‐PCNA interaction in preventing cellular transformation ...
Paola Perucca, Anna Tricarico, Martina Furfaro, Priyam Ghosh, Ennio Prosperi, Lucia Anna Stivala, Ornella Cazzalini   +6 more
wiley   +1 more source

Analyticity Properties of Graham-Witten Anomalies

, 2008
Analytic properties of Graham-Witten anomalies are considered. Weyl anomalies according to their analytic properties are of type A (coming from $\delta$-singularities in correlators of several energy-momentum tensors) or of type B (originating in ...
Asnin V, Bonora L, Gustavsson A, Henningson M, Henningson M, Schwimmer A Theisen S, Vadim Asnin   +6 more
core   +1 more source

Diffeomorphisms and Holographic Anomalies [PDF]

, 1999
Using the relation between diffeomorphisms in the bulk and Weyl transformations on the boundary we study the Weyl transformation properties of the bulk metric on shell and of the boundary action.
A Schwimmer, Aharony O, Aharony O, Bautier K, Blau M, Blau M, Bonora L, Brown J D, C Imbimbo, Deser S, Fefferman C, Graham C R, Henningson M, Henningson M, Nishimura M, Nojiri S, Penrose R, S Theisen, S Yankielowicz, Skenderis K, Witten E, Witten E   +21 more
core   +2 more sources

A light‐triggered Time‐Resolved X‐ray Solution Scattering (TR‐XSS) workflow with application to protein conformational dynamics

FEBS Open Bio, EarlyView.
Time‐resolved X‐ray solution scattering captures how proteins change shape in real time under near‐native conditions. This article presents a practical workflow for light‐triggered TR‐XSS experiments, from data collection to structural refinement. Using a calcium‐transporting membrane protein as an example, the approach can be broadly applied to study ...
Fatemeh Sabzian‐Molaei, Fredrik Orädd, Konstantinos Magkakis, Magnus Andersson   +3 more
wiley   +1 more source

Ureteral atresia presenting as an abdominal cyst: A case report

Journal of Pediatric Surgery Case Reports
Background: Ureteral atresia is a rare disease that is usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral, short, or long, and may involve any part of the ureter.
Amir Ibrahim, Mohamed Mansy, Mostafa Kotb, Mohamed Abokandil, Saber Waheeb   +4 more
doaj   +1 more source