Search Results - "Nino, Y."

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening by Faria, Douglas O. S., Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

“…Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database…”
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Experimental observations of water-like behavior of initially fluidized, dam break granular flows and their relevance for the propagation of ash-rich pyroclastic flows by Roche, O., Montserrat, S., Niño, Y., Tamburrino, A.

“…The physics of ash‐rich pyroclastic flows were investigated through laboratory dam break experiments using both granular material and water. Flows of glass…”
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Integrating cross-correlation and relaxation algorithms for particle tracking velocimetry by Brevis, W., Niño, Y., Jirka, G. H.

“…An integrated cross-correlation/relaxation algorithm for particle tracking velocimetry is presented. The aim of this integration is to provide a flexible…”
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Using Lagrangian particle saltation observations for bedload sediment transport modelling by Nino, Y, Garcia, M

“…A Lagrangian model for the saltation of sand in water is proposed. Simulated saltation trajectories neglecting particle rotation and turbulence effects compare…”
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Pore fluid pressure and internal kinematics of gravitational laboratory air-particle flows: Insights into the emplacement dynamics of pyroclastic flows by Roche, O., Montserrat, S., Niño, Y., Tamburrino, A.

“…The emplacement dynamics of pyroclastic flows were investigated through noninvasive measurements of the pore fluid pressure in laboratory air‐particle flows…”
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Investigating size-segregated sources of elemental composition of particulate matter in the South China Sea during the 2011 Vasco cruise by Hilario, Miguel Ricardo A, Cruz, Melliza T, Cambaliza, Maria Obiminda L, Reid, Jeffrey S, Xian, Peng, Simpas, James B, Lagrosas, Nofel D, Uy, Sherdon Niño Y, Cliff, Steve, Zhao, Yongjing

“…The South China Sea (SCS) is a receptor of numerous natural and anthropogenic aerosol species from throughout greater Asia. A combination of several developing…”
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Pore fluid pressure diffusion in defluidizing granular columns by Montserrat, S., Tamburrino, A., Roche, O., Niño, Y.

“…Pore fluid pressure variations play an important role in the motion of natural granular flows like debris and pyroclastic flows. Pore pressure in a…”
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Suspension and infiltration of copper concentrate in a gravel bed: a flume study to evaluate the fate of a potential spill in a Chilean river by Bustamante-Penagos, N., Niño, Y.

“…This paper shows the advances of an experimental study of the spill of copper concentrate into immobile gravel beds. The purposes of this research are to…”
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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity by Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

“…Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease‐associated variants in the acid alpha‐glucosidase (GAA) gene. The current…”
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Numerical simulation of scour around circular piles due to unsteady currents and oscillatory flows by Quezada, Matias, Tamburrino, Aldo, Niño, Y.

“…Numerical modeling of pile scour is performed due to the action of unsteady currents and oscillatory flow greens, using 3D Reynolds averaged Navier-Stokes…”
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Experimental and large eddy simulation study of the flow developed by a sequence of lateral obstacles by Brevis, W., García-Villalba, M., Niño, Y.

“…In this paper we provide a description of the three-dimensional flow induced by a sequence of lateral obstacles in a straight shallow open-channel flow with…”
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Quantifying the influence of updated land use/land cover in simulating urban climate: A case study of Metro Manila, Philippines by Llorin, Alyssa Gewell A., Olaguera, Lyndon Mark P., Magnaye, Angela Monina T., Cruz, Faye Abigail T., Dado, Julie Mae B., Gozo, Emilio C., Topacio, Xzann Garry Vincent M., Uy, Sherdon Niño Y., Simpas, James Bernard B., Villarin, Jose Ramon T.

“…This study quantifies the impact of using an updated Land Use/Land Cover (LULC) dataset in the Weather Research and Forecasting (WRF) model on simulating…”
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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience by Niño, Monica Y, Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J, Broeders, Mike, van der Beek, Nadine A M E, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Verheijen, Frans W, Pijnappel, W W M Pim

“…Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or…”
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Enhanced run-out of dam-break granular flows caused by initial fluidization and initial material expansion by Montserrat, S., Tamburrino, A., Roche, O., Niño, Y., Ihle, C. F.

“…We report results of the run-out of experimental dam-break flows in a horizontal channel generated from the collapse of columns of fine (75  μ m) particles…”
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Broad variation in phenotypes for common GAA genotypes in Pompe disease by Niño, Monica Y., in't Groen, Stijn L. M., Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, Hout, Hannerieke J. M. P., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

“…Patients with the common c.‐32‐13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood…”
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Measurements of turbulence characteristics in an open-channel flow over a transitionally-rough bed using particle image velocimetry by BIGILLON, F, NINO, Y, GARCIA, M. H

“…The particle image velocimetry technique was used to measure characteristics of a turbulent flow over a transitionally-rough fixed bed in an open-channel flow…”
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Simulating mining policies in developing countries: The case of Colombia by Arango-Aramburo, Santiago, Jaramillo, Patricia, Olaya, Yris, Smith, Ricardo, Restrepo, Oscar J., Saldarriaga-Isaza, Adrián, Arias-Gaviria, Jessica, Parra, Juan F., Larsen, Erik R., Gomez-Rios, Luz M., Castellanos-Niño, Lady Y.

“…Mining represents an important economic sector in almost all countries, especially the developing ones. The planning in this area is complex due to the…”
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Evaluation of the Energy Potential of the Gorse (Ulex Europaeus) in the Generation of Electrical Energy by Gasification by Y. Nino, L. Vega, B. Ruiz

“…The gorse (Ulex europaeus) is an exotic invasive species, coming from Europe. This species has been spreading in several sectors inside and outside the City of…”
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An AI-calibrated IF filter: a yield enhancement method with area and power dissipation reductions by Murakawa, M., Adachi, T., Nino, Y., Takahashi, E., Kasai, Y., Takasuka, K., Higuchi, T.

“…We have developed an LSI for Gm-C IF filters, attaining (1) a 63% reduction in filter area, (2) a 38% reduction in power dissipation, compared to existing…”
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Threshold for particle entrainment into suspension by NiÑo, Yarko, Lopez, Fabian, Garcia, Marcelo

“…ABSTRACT Laboratory observations regarding the limit conditions for particle entrainment into suspension are presented. A high‐speed video system was used to…”
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