Results 31 to 40 of about 19,606,378 (347)

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)

罕见病研究, 2023
Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of disorder typically appear in early childhood.
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases
doaj   +1 more source

Neurofibromatosis type 1

European Journal of Cancer, 1994
European Journal of Cancer 30 (1994) 1974-1981. doi:10.1016/0959-8049(94)00389-M ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:23:06 ; DOI:10.1016/0959-8049(94)00389-M ; Page Range: 1974 ...
The authors are at the Department of Pediatrics, Division of Genetics, Center for Mammalian Genetics S.W. Archer Road, Box 100296, University of Florida, Gainesville, Florida 32610-0296, U.S.A. ( host institution ), Colman, S.D. ( author ), Wallace, M.R. ( author )   +2 more
openaire   +3 more sources

Type $D_n^{(1)}$ rigged configuration bijection

, 2016
We establish a bijection between the set of rigged configurations and the set of tensor products of Kirillov--Reshetikhin crystals of type $D^{(1)}_n$ in full generality.
Okado, Masato, Sakamoto, Reiho, Schilling, Anne, Scrimshaw, Travis   +3 more
core   +1 more source

A journey toward an open data culture through transformation of shared data into a data resource

Data & Policy, 2022
The transition to open data practices is straightforward albeit surprisingly challenging to implement largely due to cultural and policy issues. A general data sharing framework is presented along with two case studies that highlight these challenges and
Scott D. Kahn, Anne Koralova
doaj   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

Cohort profile: the ‘Biomarkers of heterogeneity in type 1 diabetes’ study—a national prospective cohort study of clinical and metabolic phenotyping of individuals with long-standing type 1 diabetes in the Netherlands

BMJ Open
Purpose The ‘Biomarkers of heterogeneity in type 1 diabetes’ study cohort was set up to identify genetic, physiological and psychosocial factors explaining the observed heterogeneity in disease progression and the development of complications in people ...
, Erwin Birnie, Giesje Nefs, Bruce H R Wolffenbuttel, Melanie M van der Klauw, Peter R van Dijk, Klaas Hoogenberg, Henk J Veeze, Henk-Jan Aanstoot, Bruce HR Wolffenbuttel, Charlotte E Vollenbrock, Pim Dekker, Lianne S M Boesten, Martine M C de Vries-Velraeds, Adriaan Kooy, Dick Mul, Sanjoy Dutta, Rita D M Varkevisser, Michael P Brugts, Petronella H L M Duijvestijn, Christine Fransman, Rob K Gonera, Esther Latres, Sandra Loves, Theo Sas, Marleen J Vosjan-Noeverman, Rita DM Varkevisser, Lianne SM Boesten, Peter R van Dijk, Petronella HLM Duijvestijn, Martine MC de Vries-Velraeds, Melanie M van der Klauw   +31 more
doaj   +1 more source

Beta cell and immune cell interactions in autoimmune type 1 diabetes: How they meet and talk to each other

Molecular Metabolism, 2022
Background: The highly complex pathogenesis of Type 1 Diabetes is driven by several immune cell types with both effector and regulatory characteristics, which ultimately ends in the destruction of the insulin-producing beta cells.
Martin G. Scherm, Rebecca C. Wyatt, Isabelle Serr, David Anz, Sarah J. Richardson, Carolin Daniel   +5 more
doaj   +1 more source

SO_0(1,d+1) Racah coefficients: Type I representations

, 2006
We use AdS/CFT inspired methods to study the Racah coefficients for type I representations of the Lorentz group SO_0(1,d+1) with d>1. For such representations (a multiple of) the Racah coefficient can be represented as an integral of a product of 6 bulk ...
Abramowitz M., Dobrev V. K., Green M. B., Jorma Louko, Kirill Krasnov, Vilenkin N. Ja., Vilenkin N. Ja.   +6 more
core   +2 more sources

Pazopanib Combined With Vincristine and Irinotecan in Relapsed Wilms Tumor: Encouraging Outcomes in a Heavily Pretreated Pediatric Cohort

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background While Wilms tumor (WT) typically has a favorable prognosis, relapsed cases—especially those with high‐risk histology—remain therapeutically challenging after intensive frontline therapy. The combination of vincristine and irinotecan has demonstrated activity in pediatric solid tumors, and pazopanib, a multi‐targeted tyrosine kinase ...
Maria Debora De Pasquale, Alessandro Crocoli, Giuseppe Maria Milano, Pierluigi Di Paolo, Francesca Diomedi Camassei, Ida Russo, Annalisa Serra   +6 more
wiley   +1 more source

Scientific photography and animal behaviour: A historical perspective

Mètode Science Studies Journal: Annual Review
Louis Daguerre imagined that his invention would be useful mainly for artistic purposes or for personal use (portraits and travel diaries, etc.), but in fact photography soon became a valuable ally of science. The observation and documentation of natural
Enrique Font
doaj   +1 more source