Search Results - "Kwok, Ka Yin"

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications by Yu, Pui‐Tak, Shu, Wendy, Mok, Sau‐Lan, Hui, Pui‐Wah, Chan, Lin‐Wai, Kwok, Ka‐Yin, Chan, Kelvin Y. K., Lo, Tsz‐Kin, Chung, Brian H. Y., Luk, Ho‐Ming, Kan, Anita S. Y.

“…Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely…”
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LncRNA Dum interacts with Dnmts to regulate Dppa2 expression during myogenic differentiation and muscle regeneration by Wang, Lijun, Zhao, Yu, Bao, Xichen, Zhu, Xihua, Kwok, Yvonne Ka-yin, Sun, Kun, Chen, Xiaona, Huang, Yongheng, Jauch, Ralf, Esteban, Miguel A, Sun, Hao, Wang, Huating

“…Emerging studies document the roles of long non-coding RNAs （LncRNAs） in regulating gene expression at chromatin level but relatively less is known how they…”
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Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene by Zheng, Yu, Wong, Lo, Kwan, Angel Hoi Wan, Dong, Zirui, Kwok, Ka Yin, Choy, Kwong Wai, Dai, Hongzheng, Cao, Ye

“…Heterozygous loss-of-function variants in the PKD1 gene are commonly associated with adult-onset autosomal dominant polycystic kidney disease (ADPKD), where…”
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Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency by Yan, Huanchen, Zhu, Xiaofan, Chen, Jingsi, Cao, Ye, Kwok, Yvonne Ka Yin, Chen, Zihan, Leung, Tak Yeung, Chen, Min, Choy, Kwong Wai

“…Objectives To evaluate the performance of noninvasive prenatal sequencing for multiple Mendelian monogenic disorders (NIPS‐M) among fetuses with skeletal…”
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The utility of genome‐wide cell‐free DNA screening in the prenatal diagnosis of Pallister‐Killian syndrome by Chau, Matthew Hoi Kin, Lam, Doris Yuk Man, Zhu, Xiaofan, Kwok, Yvonne Ka Yin, Ting, Yuen Ha, Chan, Wan Pang, Shi, Mengmeng, Cheung, Sunny Wai Hung, Lau, Tze Kin, Ville, Yves, Leung, Tak Yeung, Choy, Kwong Wai

“…Objective To report genome‐wide cell‐free DNA (cfDNA) screening facilitating the diagnosis of Pallister‐Killian syndrome (PKS). Methods This is a retrospective…”
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Suppression of malignancy by Smad3 in mouse embryonic stem cell formed teratoma by Li, Peng, Chen, Ying, Xiaoming, Meng, Kwok, Ka Yin, Huang, Xiaoru, Choy, Kwong Wai, Wang, Chi Chiu, Lan, Huiyao, Yuan, Ping

“…Disease associated gene deficient embryonic stem cells can serve as valuable in vitro models to study disease mechanisms and screen drugs. Smad3 mediated…”
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A quality control and improvement system based on the total control methodology (TCM) by Yin Kwok, Ka, Rao Tummala, V.M

“…Reviews and evaluates different quality tools that are commonly available in manufacturing and service industries and integrates them into an effective quality…”
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Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening by Kong, Grace Wing Shan, Ma, Yanlin, Ou, Jian, Kwok, Yvonne Ka Yin, Wang, Wei, Yeung, Queenie Sum Yee, Wong, Cherry Kit Man, Li, Qi, Xu, Wen, Lu, Weiying, Li, Hong, Li, Tin Chiu, Choy, Kwong Wai

“…This study aims to validate the BACs-on-Beads (BoB) technology as a robust and high throughput method for pre-implantation genetic screening (PGS) for…”
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Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis by Chau, Matthew Hoi Kin, Cao, Ye, Kwok, Yvonne Ka Yin, Chan, Samantha, Chan, Yiu Man, Wang, Huilin, Yang, Zhenjun, Wong, Hoi Kin, Leung, Tak Yeung, Choy, Kwong Wai

“…Microdeletions and microduplications can occur in any pregnancy independent of maternal age. The spectrum and features of pathogenic copy number variants…”
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Chromosome copy number variants in fetuses with syndromic malformations by Wang, Huilin, Chau, Matthew Hoi Kin, Cao, Ye, Kwok, Ka Yin, Choy, Kwong Wai

“…Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide‐spread throughout the genome of healthy individuals. Laboratory…”
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Erratum to: Suppression of malignancy by Smad3 in mouse embryonic stem cell formed teratoma by Li, Peng, Chen, Ying, Meng, Xiaoming, Kwok, Ka Yin, Huang, Xiaoru, Choy, Kwong Wai, Wang, Chi Chiu, Lan, Huiyao, Yuan, Ping

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Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review by Zhu, Xiaofan, Lam, Doris Yuk Man, Chau, Matthew Hoi Kin, Xue, Shuwen, Dai, Peng, Zhao, Ganye, Cao, Ye, Cheung, Sunny Wai Hung, Kwok, Yvonne Ka Yin, Choy, Kwong Wai, Kong, Xiangdong, Leung, Tak Yeung

“…Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical…”
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Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA by Lau, Tze Kin, Zhu, Xiaofan, Kwok, Yvonne Ka Yin, Leung, Tak Yeung, Choy, Kwong Wai

“…No single invention in the past has created such a rapid and massive impact on clinical obstetric practice as the introduction of noninvasive prenatal…”
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BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis by Choy, Richard Kwong Wai, Chen, Ying, Sun, Xiao-Fang, Kwok, Yvonne Ka Yin, Leung, Tak Yeung

“…Karyotyping, the gold standard used for diagnosis of chromosomal abnormalities, is being progressively replaced by rapid aneuploidy testing (RAT) techniques…”
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Information and guidance for adults returning to higher education in hong kong: a case study by Kwok, Ka Yin

“…All investors aim at maximizing the returns on their investment. Many individuals in the workforce invest in themselves by the pursuit of further studies on a…”
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Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene by Zheng, Yu, Wong, Lo, Kwan, Angel Hoi Wan, Dong, Zirui, Kwok, Ka Yin, Choy, Kwong Wai, Dai, Hongzheng, Cao, Ye

“…Heterozygous loss-of-function variants in the PKD1 gene are commonly associated with adult-onset autosomal dominant polycystic kidney disease (ADPKD), where…”
Get full text

A quality control and improvement system based on the total control methodology TCM by Yin Kwok, Ka, Rao Tummala, V.M.

“…Reviews and evaluates different quality tools that are commonly available in manufacturing and service industries and integrates them into an effective quality…”
Get full text

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications by Yu, Pui-Tak, Shu, Wendy, Mok, Sau-Lan, Hui, Pui-Wah, Chan, Lin-Wai, Kwok, Ka-Yin, Chan, Kelvin Y K, Lo, Tsz-Kin, Chung, Brian H Y, Luk, Ho-Ming, Kan, Anita S Y

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22q11 microdeletion test in patients with congenital heart defects by quantitative fluorescent PCR by Chen, Ying, Mao, Jun, Kwok, Ka Yin, Kan, Hui-juan, Cheng, Hong-bo, Li, Hai-bo, Liu, Min-juan, Sun, Ying, Yan, Wen-hua, Li, Hong, Choy, Kwong Wai

“…To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital…”
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