• Journal of Genetic Medicine
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• v.17 no.1
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Journal of The Korean Astronomical Society
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• v.14 no.1
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• pp.1-11
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• 1981

Photoelectric drift scans of nearby galaxies, M106, M31 and M33 have been made at diurnal rate with the 61cm Cassegrain Reflector at Sobacksan Observing Station. Luminosity profiles of M106 and M31 show the asymmetries between east and west sides of the galaxies and the near side of each galaxy exhibits a larger B-V color than the far side. B-V color distribution in the central part of MI06 shows somewhat unusual feature of a blue center with red surrounding regions, and this is an opposite trend to the ordinary color distribution of most of external galaxies. B-V color of M31 is nearly constant in the central part of the galaxy while U-B color decreases as the distance from the center increases.

• Journal of Microbiology and Biotechnology
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• v.26 no.1
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• pp.38-43
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• 2016

Novel and specific recognition elements are of central importance in the development of a pathogen detection method. Here, we describe a simple method for identifying the cell-wall binding domain (CBD) from a sequenced bacterial genome employing homology search for phage lysin genes. A putative CBD (CPF369_CBD) was identified from a genome of Clostridium perfringens type strain ATCC 13124, and its function was studied with the CBD-GFP fusion protein recombinantly expressed in Escherichia coli. Fluorescence microscopy showed the specific binding of the fusion protein to C. perfringens cells, which demonstrates the potential of this method for the identification of novel bioprobes for specific detection of pathogenic bacteria.

• Journal of the Korean Wood Science and Technology
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• v.40 no.2
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• pp.101-109
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• 2012

Wood composites are a hygroscopic material and have ability to exchange its moisture content with air. This study investigated the formaldehyde emission and moisture content change of four wood composites (particleboard (PB), medium density fiberboard (MDF), high density fiberboard (HDF), laminated HDF (L-HDF)) as a function of bake-out temperature and time. The composites were baked out for 1, 3, 5, 7, 10, 14, 21, and 28 days at temperatures of $20{\pm}2$, $35{\pm}2$, and $50{\pm}2^{\circ}C$ in a dry oven. The moisture content change was used to determine the emission bake-out of the composites. Best bake-out time results were obtained with after 7 days all composites. Formaldehyde emission values of composites decreased with decreasing moisture content for both temperatures. The formaldehyde emission results of bake-out temperature 35 and $50^{\circ}C$ showed a similar tendency.

• Proceedings of the KIEE Conference
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• 1996.07a
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• pp.172-174
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• 1996

In this paper, the characteristics of single-phase induction motors is studied using TDFE(Time Domain Finite Element) analysis. The magnetic field equation from the Maxwell's equations is solved using 2-Dimensional TDFE method, and the circuit equations from the stator and rotor are solved simultaneously. The 3-D effects, which are the end-leakage reactance and the resistance of end-rings are considered in 2-D combined equations. The proposed method is applied to the commercial single-phase induction motor. The calculated waveforms of the currents shows a good agreement with the measured ones.

• Proceedings of the Korean Statistical Society Conference
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• 2004.11a
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• pp.295-300
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• 2004

We consider a G/M/1 queue with two-stage service policy. The server starts to serve with rate of ${\mu}1$ customers per unit time until the number of customers in the system reaches A. At this moment, the service rate is changed to that of ${\mu}2$ customers per unit time and this rate continues until the system is empty. We obtain the stationary distribution of the number of customers in the system.

• Journal of Mechanical Science and Technology
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• v.15 no.6
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• pp.735-742
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• 2001

This paper reports on the dynamics and friction characteristics of piston skirt with consideration of mixed lubrication. Piston skirt is an important part of the engine that transforms fuel into mechanical energy. The durability and low friction characteristics are important recent issues in piston skirt design. In this paper, the piston skirt motion is analyzed with consideration of mixed lubrication and piston skirt tilting motion. The entire trajectory of piston motion is obtained by using transient numerical method. Also various parameter studies are performed for piston skirt design and the development of lower frictional engine.

• Journal of Microbiology and Biotechnology
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• v.4 no.3
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• pp.191-194
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• 1994

Acetoin and ammonia, the precursors of tetramethylpyrazine (TMP) having "nutty " or "roasted" flavors, were produced by cultivating Lactococcus lactis ssp. lactis biovar. diacetilactis FC1. The effects of the volume concentration ratio (VCR) of cell-free medium on the formation of TMP were investigated using a rotary evaporator at $70^{\circ}C than at 80^{\circ}C$. As the VCR increased, the formation of TMP and the conversion ratio of acetoin to TMP increased. More TMP were formed at $70^{\circ}C than at 80^{\circ}C$. As the VCR increased, the concentration of acetoin decreased implying the formation of TMP from acetoin and ammonia.

• Journal of Korean Neurosurgical Society
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• v.51 no.2
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• pp.105-108
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• 2012

Giant spinal schwannoma of the cauda equine involving many nerve roots is rare, and ossification is usually not observed in the schwannoma. A 21-year-old man presented with a 12-month history of urinary dysfunction and numbness below the buttocks. Plain radiography showed scalloping of the posterior surface of the vertebral bodies from L4 to the sacrum, and magnetic resonance imaging and computed tomography revealed a giant cauda equina tumor with dystrophic calcification. The tumor was completely removed, with intraoperative neurophysiologic monitoring. Histopathologic examination showed that the tumor was a schwannoma. The patient's postoperative course was uneventful, with urinary function and numbness gradually improving. Although a giant schwannoma accompanied by dystrophic calcification is extremely rare, such a tumor can be removed safely and completely by meticulous dissection and careful neuromonitoring of the cauda equina spinal nerves involved in the tumor.

• Journal of Korean Society of Rural Planning
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• v.15 no.2
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• pp.9-17
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• 2009

The purpose of this study is to discuss issues on how locality can be revealed through landscape planning and design especially in the local environment. Over the past decade, there has been substantial increase in architects and landscape architects working internationally. There are many that believe this may lead to a unifying global brand of design that overlooks the identity and specificity of place. This lead us to think opportunities and challenges for designers working internationally to understand and create a unique sense of place. Relations between contemporary design trend and local identity will be studied through case studies. Design strategies and languages on revealing locality will be also discussed with the Suncheon Education Culture Center project.