Bibliografías temáticas / SMALED

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Literatura académica sobre el tema "SMALED"

Autor: Grafiati
Publicado: 7 de diciembre de 2024
Última modificación: 31 de julio de 2025

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Artículos de revistas sobre el tema "SMALED"

1

Sharkova, I. V., P. A. Shatalov, and E. L. Dadali. "VARIETY OF CLINICAL MANIFESTATIONS IN MUTATIONS IN THE DYNC1H1 GENE." Russian neurological Journal, no. 3 (September 3, 2019): 31–36. http://dx.doi.org/10.30629/2658-7947-2019-24-3-31-36.

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Introduction. To date, DYNC1H1 gene mutations are known for large number of hereditary diseases. It is believed that different mutations have variable effects to protein function and, accordingly, to various clinical manifestations. Results. There are a clinical and genetic characteristics of two Russian patients with two types of diseases: spinal muscular atrophy with predominant lesion of the lower extremities (SMALED) and non-syndromic mental retardation type 13 (MR13) in combination with a brain malformations and epilepsy due to newly identified mutations in the DYNC1H1 gene. Conclusion Th
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Ribeiro-Mourão, Francisco, Ana Vilan, Sara Passos-Silva, Fernando Silveira, Miguel Leão, and Mafalda Sampaio. "Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis." Journal of Neonatology 36, no. 1 (2022): 63–68. http://dx.doi.org/10.1177/09732179211068815.

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Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition comprising congenital multiple joint contractures, and it is secondary to decreased fetal mobility following environmental/genetic abnormalities. BICD2 pathogenic variants have been associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). We report the case of a newborn with decreased fetal movements and ventriculomegaly diagnosed in utero, born with severe AMC, multiple bone fractures, congenital hip dislocation, and respiratory insufficiency that led to neonatal death. His mot
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Aziz, Iqra, Mark Davis, and Christina Liang. "Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)." BMJ Case Reports 15, no. 3 (2022): e248297. http://dx.doi.org/10.1136/bcr-2021-248297.

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An elderly man in his early 80s presented with a 6-month history of worsening lower limb weakness on a background of a longer-standing waddling gait. Examination revealed bilateral scapular winging, and weakness in his proximal and distal lower limbs. Electromyography showed widespread chronic partial denervation changes, while sensory and motor nerve conduction parameters were preserved. After little progression over the course of 18 months, motor neuron disease was deemed less likely. Genetic testing revealed BICD2-related spinal muscular atrophy with lower extremity dominance (SMALED2), a d
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Trimouille, Aurélien, Émilie Obre, Guillaume Banneau, et al. "An in-frame deletion in BICD2 associated with a non-progressive form of SMALED." Clinical Neurology and Neurosurgery 166 (March 2018): 1–3. http://dx.doi.org/10.1016/j.clineuro.2018.01.013.

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WIELER, SUSANA. "Smale spaces via inverse limits." Ergodic Theory and Dynamical Systems 34, no. 6 (2013): 2066–92. http://dx.doi.org/10.1017/etds.2013.19.

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AbstractA Smale space is a chaotic dynamical system with canonical coordinates of contracting and expanding directions. The basic sets for Smale’s Axiom $A$ systems are a key class of examples. We consider the special case of irreducible Smale spaces with zero-dimensional contracting directions, and characterize these as stationary inverse limits satisfying certain conditions.
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Hemerková, Pavlína, Hana Matulová, Pavel Kunc, Lenka Pospíšlová, and Jiří Jandura. "Spinal muscular atrophy affecting the lower limbs, dominantly inherited (SMALED), an example of a non-5q form of the disease." Neurologie pro praxi 24, no. 1 (2023): 65–69. http://dx.doi.org/10.36290/neu.2022.051.

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Barinova, M. K., E. Y. Gogulina, and O. V. Pochinka. "Omega-classification of Surface Diffeomorphisms Realizing Smale Diagrams." Nelineinaya Dinamika 17, no. 3 (2021): 321–34. http://dx.doi.org/10.20537/nd210306.

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The present paper gives a partial answer to Smale’s question which diagrams can correspond to $(A,B)$-diffeomorphisms. Model diffeomorphisms of the two-dimensional torus derived by “Smale surgery” are considered, and necessary and sufficient conditions for their topological conjugacy are found. Also, a class $G$ of $(A,B)$-diffeomorphisms on surfaces which are the connected sum of the model diffeomorphisms is introduced. Diffeomorphisms of the class $G$ realize any connected Hasse diagrams (abstract Smale graph). Examples of diffeomorphisms from $G$ with isomorphic labeled Smale diagrams which
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Becker, Lena-Luise, Hormos Salimi Dafsari, Jens Schallner, et al. "The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification." Journal of Human Genetics 65, no. 11 (2020): 1003–17. http://dx.doi.org/10.1038/s10038-020-0803-1.

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AbstractMutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been identified in rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) and autosomal dominant mental retardation syndrome 13 (MRD13). Phenotypes and genotypes of ten pediatric patients with pathogenic DYNC1H1 variants were analyzed in a multi-center study. Data mining of large-scale genomic variant databases was used to investigate domain-specific vulnerability and conservation of DYNC1H1. We identified ten patients with nine novel mu
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Hoang, Ha Thi, Max A. Schlager, Andrew P. Carter, and Simon L. Bullock. "DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes." Proceedings of the National Academy of Sciences 114, no. 9 (2017): E1597—E1606. http://dx.doi.org/10.1073/pnas.1620141114.

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Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a recombinant expression system for human dynein coupled to single-molecule resolution in vitro motility assays. We functionally characterize 14 DYNC1H1 mutations identified in humans diagnosed w
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Amini, Massoud, Ian F. Putnam, and Sarah Saeidi Gholikandi. "Homology for one-dimensional solenoids." MATHEMATICA SCANDINAVICA 121, no. 2 (2017): 219. http://dx.doi.org/10.7146/math.scand.a-26265.

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Smale spaces are a particular class of hyperbolic topological dynamical systems, defined by David Ruelle. The definition was introduced to give an axiomatic description of the dynamical properties of Smale's Axiom A systems when restricted to a basic set. They include Anosov diffeomeorphisms, shifts of finite type and various solenoids constructed by R. F. Williams. The second author constructed a homology theory for Smale spaces which is based on (and extends) Krieger's dimension group invariant for shifts of finite type. In this paper, we compute this homology for the one-dimensional general
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Tesis sobre el tema "SMALED"

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Calon, Maëliss. "Étude des bases moléculaires et cellulaires de la vulnérabilité des neurones moteurs dans l'amyotrophie spinale distale des membres inférieurs." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS282.pdf.

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Les altérations du transport intracellulaire peuvent provoquer une neurodégénérescence ou entraver le développement des circuits neuronaux. Ainsi, des mutations dominantes dans DYNC1H1 (chaîne lourde de la dynéine) et dans son partenaire BICD2, deux composants essentiels de la machinerie de transport intracellulaire, sont à l'origine d'une maladie neurodéveloppementale des motoneurones appelée amyotrophie spinale avec prédominance des membres inférieurs (SMALED). Dans cette maladie, les motoneurones innervant les membres sont sélectivement affectés indiquant une dépendance graduelle au transpo
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Šenk, Miroslav. "Využití spektrální analýzy pro převod trojúhelníkových polygonálních 3D sítí na 3D spline plochy." Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2007. http://www.nusl.cz/ntk/nusl-412770.

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In this work we deal with conversion of 3D triagonal polygonal meshes to the 3D spline patches using spectral analysis. The converted mesh is divided into quadrilaterals using eigenvectors of Laplacian operator. These quadrilaterals will be converted into spline patches. We will present some interesting results of this method. The assets and imperfections of this method will be briefly discussed.
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Potts, Joanne M. "Estimating abundance of rare, small mammals : a case study of the Key Largo woodrat (Neotoma floridana smalli)." Thesis, University of St Andrews, 2011. http://hdl.handle.net/10023/2068.

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Estimates of animal abundance or density are fundamental quantities in ecology and conservation, but for many species such as rare, small mammals, obtaining robust estimates is problematic. In this thesis, I combine elements of two standard abundance estimation methods, capture-recapture and distance sampling, to develop a method called trapping point transects (TPT). In TPT, a "detection function", g(r) (i.e. the probability of capturing an animal, given it is r m from a trap when the trap is set) is estimated using a subset of animals whose locations are known prior to traps being set. Gener
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Högele, Michael, and Ilya Pavlyukevich. "Metastability of Morse-Smale dynamical systems perturbed by heavy-tailed Lévy type noise." Universität Potsdam, 2014. http://opus.kobv.de/ubp/volltexte/2014/7063/.

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We consider a general class of finite dimensional deterministic dynamical systems with finitely many local attractors each of which supports a unique ergodic probability measure, which includes in particular the class of Morse–Smale systems in any finite dimension. The dynamical system is perturbed by a multiplicative non-Gaussian heavytailed Lévy type noise of small intensity ε > 0. Specifically we consider perturbations leading to a Itô, Stratonovich and canonical (Marcus) stochastic differential equation. The respective asymptotic first exit time and location problem from each of the domai
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Tognoloni, Cecilia. "Formation of polymer lipid nanodiscs for membrane protein studies." Thesis, University of Bath, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.760950.

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Small, LaCee M. "Effects of data-driven instruction and goal setting on science learning and test scores." Montana State University, 2012. http://etd.lib.montana.edu/etd/2012/small/SmallL0812.pdf.

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Data-driven instruction and goal setting are by no means new to the field of education. This study examined how data-driven instruction combined with student goal setting affected test scores and student engagement as well as how it affected my teaching practices. Analysis of surveys, test scores, journals, interviews and observation protocols indicate that while there was no significant improvement in student engagement in science as observed by teachers and self-reported by students, test scores did increase and students enjoyed the goal setting process and felt that it helped their learning
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Haynes, Elizabeth Lydia. "Smale Flows on Three Dimensional Manifolds." OpenSIUC, 2012. https://opensiuc.lib.siu.edu/dissertations/470.

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We discuss how to realize simple Smale Flows on 3-manifolds. We focus on three questions: (1) What are the topological conjugate classes of Lorenz Smale flows that can be realized on S3? (2) Which 3-manifolds can also admit a Lorenz Smale flow? (3) What are the topological conjugate classes of simple Smale flows whose saddle set can be modeled by &nu(0+,0+,0,0) can be realized on S3? This dissertation extends the work of M. Sullivan and B. Yu.
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Betermin, Laurent. "Energies de réseaux et calcul variationnel." Thesis, Paris Est, 2015. http://www.theses.fr/2015PEST1006/document.

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Dans cette thèse, nous étudions des problèmes de minimisation d'énergies discrètes et nous cherchons à comprendre pourquoi une structure périodique peut être un minimiseur pour une énergie d'interaction, c'est ce que l'on appelle un problème de cristallisation. Après avoir montré qu'un réseau de R^d soumis à un certain potentiel paramétré peut être vu comme un minimum local, nous démontrons des résultats d'optimalité du réseau triangulaire parmi les réseaux de Bravais du plan pour certaines énergies par point, avec ou sans densité fixée. Finalement, nous démontrons, à partir des travaux de San
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Coelho, José Augusto [UNESP]. "Interpretação eletrostática e a conjectura se Smale." Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/94276.

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Made available in DSpace on 2014-06-11T19:26:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-01-25Bitstream added on 2014-06-13T19:55:24Z : No. of bitstreams: 1 coelho_ja_me_sjrp.pdf: 348011 bytes, checksum: 34e9942042312b5c3c0bd68f0673e590 (MD5)<br>Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)<br>Nesta dissertação estudamos a conjectura de Smale junto com a maioria dos resultados sobre este assunto e sua interpretação eletrostática. Mostramos alguns testes numéricos sobre a citada conjectura, para podermos analisar sua interpretação eletrostática.<br>In this
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Coelho, José Augusto. "Interpretação eletrostática e a conjectura se Smale /." São José do Rio Preto : [s.n.], 2010. http://hdl.handle.net/11449/94276.

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Orientador: Dimitar Kolev Dimitrov<br>Banca: Ana Paula Peron<br>Banca: Cleonice Fátima Bracciali<br>Resumo: Nesta dissertação estudamos a conjectura de Smale junto com a maioria dos resultados sobre este assunto e sua interpretação eletrostática. Mostramos alguns testes numéricos sobre a citada conjectura, para podermos analisar sua interpretação eletrostática.<br>Abstract: In this dissertation we study a conjecture of smale together with majority of results about this topic and its electrostatic interpretation. We show some numerical tests concerning the conjecture in order to analise its ele
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Libros sobre el tema "SMALED"

1

Hager, Mandy. Smashed. Random House New Zealand, 2007.

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1937-, Williams Gwynne, and Chess Victoria, eds. Smalwod. Gwasg Cambria, 1991.

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Shohet, Uri. Smalah. Ofir bikurim, 2022.

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Batacan, F. H. Smaller and smaller circles: A novel. University of the Philippines Press, 2002.

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Liepins, Laudis. Smalki Laudis. Liesma, 1990.

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Boyle, Martin. The smalls. B&T, 1998.

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Couture, François. Denis Smalley. INA/GRM, 2010.

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Bonatti, Christian. Difféomorphismes de smale des surfaces. Société mathématique de France, 1998.

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Bonatti, C. Difféomorphismes de Smale des surfaces. Société mathématique de France, 1998.

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Putnam, Ian F. A homology theory for Smale spaces. American Mathematical Society, 2014.

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Capítulos de libros sobre el tema "SMALED"

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Guerraggio, Angelo. "Stephen Smale." In Mathematical Lives. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-13606-1_27.

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Howie, Crawford. "Small is beautiful: Schubert’s smaller sacred works." In The Unknown Schubert. Routledge, 2017. http://dx.doi.org/10.4324/9781315085012-4.

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"Foreword." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-1-en.

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"Major Economic Trends in Commonwealth Small States." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-2-en.

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"Commonwealth Small States and the International Trading System." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-3-en.

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"Manufacturing Competitiveness with Special Reference to Small States." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-4-en.

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"Basic Statistics." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-5-en.

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"Foreword." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-1-en.

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"Recent Economic Trends in Commonwealth Small States." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-2-en.

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"An Overview of Vulnerability Issues." In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-3-en.

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Actas de conferencias sobre el tema "SMALED"

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Wang, Zhenwei, Haiying Zhang, and Tingxian Gao. "Small Target Detection Based on Enhanced RFCN Driven By Smaller Data Set." In ICRCA 2019: 2019 The 4th International Conference on Robotics, Control and Automation. ACM, 2019. http://dx.doi.org/10.1145/3351180.3351181.

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Loscombe, R. "The ISO 12215 Scantling Standard – Development and Implementation." In Small Craft Regulations. RINA, 2004. http://dx.doi.org/10.3940/rina.sc.2004.06.

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Hanbidge, Philip J. "A Mission-Driven Approach To Vessel Design." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.03.

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Hentinen, Markku. "Workboat Design with Self-Organising Map Technique (SOM)." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.02.

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Francescutto, Alberto, Antonio Cardo, and Giulio Russo Krauss. "Dynamic Stability and Effect of Water on Deck Small Fishing Vessels." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.06.

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Kuo, C., S. Houison Craufurd, and M. McGowan. "Application of Formal Safety Management to Small Craft Safety." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.11.

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Deakin, Barry. "The Stability of Beam Trawlers." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.05.

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Holm, Gunnar. "Critical Safety Principles in Small Craft Design and Rule Development." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.12.

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Dahle, Emil Aall, Gisli Viggosson, and Dag Myrhaug. "Safe Operation of Fishing Vessels Based Upon Continuous Measurements of Environmental Conditions and Vessel Stability." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.07.

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Boccadamo, G., R. Pennarola, A. Scamardella, and G. Simeon. "Working Conditions on Small Fishing Vessels: Accident Investigation, Seaworthiness and Design Aspects." In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.09.

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Informes sobre el tema "SMALED"

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Ribeiro-Silva, Suelma, Laurent Durieux, Line Rochefort, Lyu Cai, Chris Gouramanis, and Hugh Robertson. Small Wetlands: Their importance and strategies for effective conservation. Convention on Wetlands, 2025. https://doi.org/10.69556/strp.pb7.25.eng.

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This policy brief has been prepared by the Scientific and Technical Review Panel (STRP) of the Convention on Wetlands in response to Resolution XIV.15 on Enhancing the Conservation and Management of Small Wetlands and Resolution XIII.21 on Conservation and Management of Small Wetlands. It outlines key actions for policymakers and wetland managers to protect, restore and wisely use the vital functions of small wetlands, defined as wetlands smaller than 8 ha.
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Hangen, Eric, and Michael E. Hangen. CDFIs Can Make the SBA PPP Loan Program Work for Smaller, Minority-Owned, and Women-Owned, Small Businesses. University of New Hampshire Libraries, 2020. http://dx.doi.org/10.34051/p/2020.386.

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Wiersch, AnnMarie, Scott Lieberman, and Barbara J. Lipman. Click, Submit 2.0: An Update on Online Lender Applicants from the Small Business Credit Survey. Federal Reserve Bank of Cleveland, 2019. http://dx.doi.org/10.26509/frbc-cd-20191218.

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This study presents an analysis of data from the 2018 Small Business Credit Survey. The findings shed light on the types of small firms using online lenders, their application experiences, and credit outcomes. Among the main findings: Firms that apply at online lenders are more likely to be smaller, have lower credit scores, report more financial challenges, and be less profitable than firms that apply at only traditional lenders. In addition, black-owned and Hispanic-owned firms are more likely than white-owned and Asian-owned firms to report they applied at an online lender. Furthermore, onl
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Olarreaga, Marcelo, and Andreas Lendle. Can Online Markets Make Trade More Inclusive? Inter-American Development Bank, 2014. http://dx.doi.org/10.18235/0006985.

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Technology made available by online markets has signifcantly reducedthe cost of entry into international markets for small and medium sized firms, who can now reach far away consumers and create global reputation as a seller at very low costs. Empirical evidence using data from eBay sellers shows that a large share of online firms exports, even though they are on average much smaller than traditional offline firms. We show that in a world where income inequality is driven by an uneven distribution of capital rents, online markets help to reduce income inequality by providing smaller firms acce
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Athey, Susan, Christian Catalini, and Catherine Tucker. The Digital Privacy Paradox: Small Money, Small Costs, Small Talk. National Bureau of Economic Research, 2017. http://dx.doi.org/10.3386/w23488.

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Koopmann, Patrick, and Jieying Chen. Deductive Module Extraction for Expressive Description Logics (Extended Version). Technische Universität Dresden, 2020. http://dx.doi.org/10.25368/2022.262.

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In deductive module extraction, we determine a small subset of an ontology for a given vocabulary that preserves all logical entailments that can be expressed in that vocabulary. While in the literature stronger module notions have been discussed, we argue that for applications in ontology analysis and ontology reuse, deductive modules, which are decidable and potentially smaller, are often sufficient. We present methods based on uniform interpolation for extracting different variants of deductive modules, satisfying properties such as completeness, minimality and robustness under replacements
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Westley, Glenn D. Can Financial Market Policies Reduce Income Inequality? Inter-American Development Bank, 2001. http://dx.doi.org/10.18235/0008882.

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This paper seeks to answer two questions: How can we further develop a country¿s microfinance industry and what impact might this have on the country¿s income distribution?. Also it presents substantial arguments and data to support the contention that improving the access of micro and small enterprises to financial services could have an important salutary impact on a country's income distribution. To demonstrate this, the paper shows first that many poor own or are employed by smaller enterprises, second that smaller enterprises are indeed poorly served with formal and semi-formal credit, an
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Thorn, R. J. Conductors with small Fermi energies and small gap energies. Office of Scientific and Technical Information (OSTI), 1993. http://dx.doi.org/10.2172/10184534.

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Douville, Travis, Mark Severy, Lorin Wall, and Kendall Mongird. Small Hydropower Interconnections: Small Hydropower in the United States. Office of Scientific and Technical Information (OSTI), 2022. http://dx.doi.org/10.2172/1882596.

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Cooper, Rachel. Water in Sustainable Agriculture Standards. Institute of Development Studies (IDS), 2021. http://dx.doi.org/10.19088/k4d.2021.037.

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Resumen
This review synthesises evidence on water in sustainable agriculture standards. Sustainable agricultural standards, hereafter standards, is a broad term encompassing certification schemes, tools, and programmes. The International Trade Centre’s Sustainability Standards Map includes 166 agricultural standards . However, there is a smaller number of prominent standards that are popularly used by major retailers or for particular commodities. Two studies looking at how water is considered in standards selected smaller numbers: Morgan (2017) benchmarks 25 popular use conventional agricultural stan
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