Search Results - "Luk, M H"

NSD1 mutations generate a genome-wide DNA methylation signature by Choufani, S., Cytrynbaum, C., Chung, B. H. Y., Turinsky, A. L., Grafodatskaya, D., Chen, Y. A., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M. T., Luk, H. M., Lo, I. F. M., Lam, S. T. S., Caluseriu, O., Stavropoulos, D. J., Reardon, W., Mendoza-Londono, R., Brudno, M., Gibson, W. T., Chitayat, D., Weksberg, R.

“…Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome…”
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Radiation Therapy Quality Assurance Tasks and Tools: The Many Roles of Machine Learning by Kalet, Alan M., Luk, Samuel M. H., Phillips, Mark H.

“…The recent explosion in machine learning efforts in the quality assurance (QA) space has produced a variety of proofs‐of‐concept many with promising results…”
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Formation and control of Turing patterns in a coherent quantum fluid by Ardizzone, Vincenzo, Lewandowski, Przemyslaw, Luk, M. H., Tse, Y. C., Kwong, N. H., Lücke, Andreas, Abbarchi, Marco, Baudin, Emmanuel, Galopin, Elisabeth, Bloch, Jacqueline, Lemaitre, Aristide, Leung, P. T., Roussignol, Philippe, Binder, Rolf, Tignon, Jerome, Schumacher, Stefan

“…Nonequilibrium patterns in open systems are ubiquitous in nature, with examples as diverse as desert sand dunes, animal coat patterns such as zebra stripes, or…”
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Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study by Kwong, Anna KY, Zhang, Yanmin, Ho, Ronnie SL, Gao, Yuan, Ling, Xu, Tsang, Mandy HY, Luk, HM, Chung, Brian HY, Bönnemann, Carsten G, Javed, Asif, Chan, Sophelia HS

“…•Good phenotypic-genotypic correlation of 13 patients with collagen VI MD.•Most patients (80%) have dominant negative mutations in triple helical…”
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An Investigation of Sound-Symbolism in the Context of Tactile Feeling by Lo, Lap-Yan, Luk, H. M., Thompson, Nigel

“…Sound symbolism suggests a non-arbitrary relationship between speech sounds and the concepts to which those sounds refer (Hinton, Nichols, & Ohala, 2006 )…”
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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies by Leung, Gordon K. C., Luk, H. M., Tang, Vincent H. M., Gao, W. W., Mak, Christopher C. Y., Yu, Mullin H. C., Wong, W. L., Chu, Yoyo W. Y., Yang, W. L., Wong, Wilfred H. S., Ma, Alvin C. H., Leung, Anskar Y. H., Jin, D. Y., Chan, Kelvin Y. K., Allanson, Judith, Lo, Ivan F. M., Chung, Brian H. Y.

“…RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS),…”
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A population-competition model for analyzing transverse optical patterns including optical control and structural anisotropy by Tse, Y C, Chan, Chris K P, Luk, M H, Kwong, N H, Leung, P T, Binder, R, Schumacher, Stefan

“…We present a detailed study of a low-dimensional population-competition (PC) model suitable for analysis of the dynamics of certain modulational instability…”
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Familial patellar dislocation associated with t(15;20) (q24;q13.1) by Chan, CM Jimmy, Chau, YM Jackie, Woo, SB, Luk, HM, Lo, Ivan FM

“…Patellar instability is a common debilitating injury affecting young active individuals. It accounts for approximately 3% of all knee injuries. We report a…”
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Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series by Yu, P T, Ho, S, Ng, S C, Lo, F M, Luk, H M

“…Molecular studies are sometimes crucial to reach an accurate subtype classification as there are significant overlapping clinical features and heterogeneity…”
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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation by Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.

“…ABSTRACT Germline copy‐number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we…”
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Children's School-Day Nutrient Intake in Ontario: A Cross-Sectional Observational Study Comparing Students' Packed Lunches from Two School Schedules by Neilson, Lisa J, Macaskill, Lesley A, Luk, Jonathan M H, Sharma, Navreeti, Salvadori, Marina I, Seabrook, Jamie A, Dworatzek, Paula D N

“…This study compared the caloric and nutrient values of packed lunch contents and consumption in the Balanced School Day (BSD) (two 20 min eating periods)…”
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Automatic quality assurance of radiotherapy treatment plans using Bayesian networks: A multi-institutional study by Kalendralis, Petros, Luk, Samuel M H, Canters, Richard, Eyssen, Denis, Vaniqui, Ana, Wolfs, Cecile, Murrer, Lars, van Elmpt, Wouter, Kalet, Alan M, Dekker, Andre, van Soest, Johan, Fijten, Rianne, Zegers, Catharina M L, Bermejo, Inigo

“…Artificial intelligence applications in radiation oncology have been the focus of study in the last decade. The introduction of automated and intelligent…”
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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series by Leung, W Y, Luk, H M, Vardhanabhuti, V, Gao, Y, Hui, K F, Lau, W Y, Young, T P H, Li, J T C, Fung, E L W, Chiu, A T G, Lo, I F M, Chung, B H Y, Cheung, Y F, Chan, S H S

“…A 14-year-old boy who first presented with symptoms of facioscapulohumeral muscular dystrophy type 1 from age 11 years. (a-c)Axial T1-weighted and (d-f) short…”
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Genetic profile and clinical application of chromosomal microarray in children with intellectual disability in Hong Kong by Chan, P Yt, Luk, H M, Lee, F My, Lo, I Fm

“…Chromosomal microarray (CMA) is recommended as a first-tier genetic investigation for intellectual disability (ID), developmental delay, or autism spectrum…”
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Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax by Luk, H M, Tong, T Mf, Lo, I Fm

“…High-resolution computed tomography of the thorax for all showed multiple thin-walled pulmonary cysts of variable size on both sides, mainly located at the…”
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Silver-Russell syndrome in Hong Kong by Luk, H M, Yeung, K S, Wong, W L, Chung, B Hy, Tong, T Mf, Lo, I Fm

“…To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely…”
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Optically Controlled Orbital Angular Momentum Generation in a Polaritonic Quantum Fluid by Luk, S M H, Kwong, N H, Lewandowski, P, Schumacher, S, Binder, R

“…Applications of the orbital angular momentum (OAM) of light range from the next generation of optical communication systems to optical imaging and optical…”
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Response to: Comment on ‘How do paper and electronic records compare for completeness? A three centre study’ by Wu, Clara Hoi Ka, Luk, Sheila M. H., Holder, Richard L., Rodrigues, Zena, Ahmed, Faisal, Murdoch, Ian

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Correction: How do paper and electronic records compare for completeness? A three centre study by Wu, Clara Hoi Ka, Luk, Sheila M. H., Holder, Richard L., Rodrigues, Zena, Ahmed, Faisal, Murdoch, Ian

“…Following the publication of the above article the authors noted an error in the author list, 2 authors were mistakenly omitted. Zena Rodrigues and Faisal…”
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The nail points to the diagnosis by Tong, Stephanie YK, Luk, HM, Tong, Tony MF, Lo, Ivan FM

“…[...]it was considered to be pathogenic.3 Figure 3. DNA sequence chromatographs of the patient. (a) A heterozygous c.175T[greater than]C mutation in exon 2 of…”
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