المؤلفون: Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

المصدر: The Lancet Regional Health. Western Pacific, Vol 55, Iss , Pp 101473- (2025)

مصطلحات موضوعية: Genome sequencing, Short read genome sequencing, Long read genome sequencing, Hong Kong genome project, Population-based genome project, Rare disease, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666606525000100; https://doaj.org/toc/2666-6065

URL الوصول: https://doaj.org/article/4b17af3f65cd4a0798c80ede756b3c12

المؤلفون: Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 23 (2024)

مصطلحات موضوعية: newborn screening, inborn errors of metabolism, inherited metabolic disorders, dried blood spots, tandem mass spectrometry, Hong Kong, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2409-515X/10/1/23; https://doaj.org/toc/2409-515X; https://doaj.org/article/9e174954a012423e9418a84e92790b6e

الاتاحة: https://doi.org/10.3390/ijns10010023
https://doaj.org/article/9e174954a012423e9418a84e92790b6e

المؤلفون: Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Mitochondrial diseases, Prevalence, Hong Kong, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a751dccace7643758afd7f2cea4c2452

المؤلفون: Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/8ce0e5d5ecfa4c0e88127fc033641922

المؤلفون: Amy Wing-Sze Leung, Henry Chi-Ming Leung, Chak-Lim Wong, Zhen-Xian Zheng, Wui-Wang Lui, Ho-Ming Luk, Ivan Fai-Man Lo, Ruibang Luo, Tak-Wah Lam

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: MinION sequencing, Medical exome sequencing, Third-generation sequencing, Target enrichment, Ensemble variant calling, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/43de88db4f6541e885194ec45139b230

المؤلفون: Sheng Mou Lin, Ho Ming Luk, Ivan Fai Man Lo, Wai‐Keung Tam, Kelvin Yuen Kwong Chan, Hei‐Yee Tse, Wing Cheong Leung, Mary Hoi Yin Tang, Anita Sik Yau Kan

المصدر: Clinical Case Reports, Vol 8, Iss 8, Pp 1369-1375 (2020)

مصطلحات موضوعية: molecular diagnosis, mosaic variegated aneuploidy, prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/5f7d3ec0503c48448b3030a1433f610f

المؤلفون: Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: structural variations, mate-pair genome sequencing, neurodevelopmental disorders, Absence of heterozygosity (AOH), CNV (copy number variant), insertion, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.803088/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/d442877cef694c318e8f2e16eaba1c2f

المؤلفون: Yuen Ying Poon, Jennifer, Tsz Shun Mok, Myth, Ka Lun Ho, Stephanie, Sze Wing Cheng, Shirley, Fai Man Lo, Ivan, Ho-Ming Luk

المصدر: Clinical Dysmorphology; Jul2024, Vol. 33 Issue 3, p128-133, 6p

المؤلفون: Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Lai-Ting Leung, Emily Kai Yee Lam, Myth Tsz Shun Mok, Ivan Fai Man Lo, Ho-Ming Luk

المصدر: Clinical Dysmorphology.

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, General Medicine, Anatomy, Genetics (clinical), Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::624380e1877af1ae4f4507181690ac56
https://doi.org/10.1097/mcd.0000000000000462

المؤلفون: Min Ou, Henry Chi-Ming Leung, Amy Wing-Sze Leung, Ho-Ming Luk, Bin Yan, Chi-Man Liu, Tony Ming-For Tong, Myth Tsz-Shun Mok, Wallace Ming-Yuen Ko, Wai-Chun Law, Tak-Wah Lam, Ivan Fai-Man Lo, Ruibang Luo

المصدر: NAR Genomics and Bioinformatics. 4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76f24717c9f074b4c73962b42ec065d
https://doi.org/10.1093/nargab/lqac005

المؤلفون: Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, structural variations, mate-pair genome sequencing, neurodevelopmental disorders, Absence of heterozygosity (AOH), CNV (copy number variant), insertion, inversion, complex rearrangements

Relation: https://figshare.com/articles/dataset/DataSheet1_Investigation_of_Chromosomal_Structural_Abnormalities_in_Patients_With_Undiagnosed_Neurodevelopmental_Disorders_docx/19594591

الاتاحة: https://doi.org/10.3389/fgene.2022.803088.s001
https://figshare.com/articles/dataset/DataSheet1_Investigation_of_Chromosomal_Structural_Abnormalities_in_Patients_With_Undiagnosed_Neurodevelopmental_Disorders_docx/19594591

المؤلفون: Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo

المصدر: Frontiers in genetics. 13

مصطلحات موضوعية: Genetics, Molecular Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f693159d96d2d680f7060945ec6a42f5
https://pubmed.ncbi.nlm.nih.gov/35495136

المؤلفون: Kris Pui-Tak Yu, Jasmine L.F. Fung, Ivan Fai-Man Lo, Brian H.Y. Chung, Ho-Ming Luk

المصدر: European journal of medical genetics. 64(1)

مصطلحات موضوعية: Adult, Male, Developmental Disabilities, Biology, Disease cluster, Genotype phenotype, Correlation, Craniofacial Abnormalities, Neurodevelopmental disorder, Loss of Function Mutation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Craniofacial, Clinical phenotype, Genetics (clinical), Infant, General Medicine, Syndrome, medicine.disease, Phenotype, Child, Preschool, BAINBRIDGE-ROPERS SYNDROME, Female, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22874021475a24e8c20f02a4c895402b
https://pubmed.ncbi.nlm.nih.gov/33242595

المؤلفون: Siu-Fong, Or June, Ming-for, Tong Tony, Fai-Man, Lo Ivan, Chi-Wai, Law, Ting-Yat, Miu, Delphine, Trochet, Tak-Sum, Lam Stephen

المصدر: Chinese Medical Journal ; volume 119, issue 20, page 1749-1752 ; ISSN 0366-6999

الاتاحة: http://dx.doi.org/10.1097/00029330-200610020-00014
https://journals.lww.com/00029330-200610020-00014

المؤلفون: Kwun Yue Yvonne Cheng, Fai Man Lo, Sik Yau Anita Kan, Po Lam So, Sau Lan Mok, Chin Peng Lee, Wai Kuen Yung, Wan Kam Chiu, Hoi Yin Mary Tang, Shui Lam Mak, Kwan Yiu Cheuk, Hon Yin Brian Chung, Tsz Kin Lo

المصدر: Journal of Obstetrics and Gynaecology Research. 43:1821-1829

مصطلحات موضوعية: 0301 basic medicine, Gynecology, Infertility, medicine.medical_specialty, Fetus, Pregnancy, 030219 obstetrics & reproductive medicine, Multivariate analysis, business.industry, Obstetrics and Gynecology, Aneuploidy, Prenatal diagnosis, Retrospective cohort study, Odds ratio, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::56fda41bf9aa04c5a06aca83825b70b3
https://doi.org/10.1111/jog.13451

المؤلفون: Mack J. Schermer, Fai Man Lo, Stephen T.S. Lam, Grace Wing Shan Kong, Shaoping Wu, J. Kent Moore, Tak Yeung Leung, Yvonne K. Kwok, Kwong Wai Choy, Kit Man Wong

المصدر: Clinica Chimica Acta. 456:137-143

مصطلحات موضوعية: Electrophoresis, Male, 0301 basic medicine, Fragile x, Clinical Biochemistry, Pcr assay, Biology, Polymerase Chain Reaction, Biochemistry, law.invention, 03 medical and health sciences, Capillary electrophoresis, Trinucleotide Repeats, law, medicine, Humans, Allele, Polymerase chain reaction, Southern blot, Biochemistry (medical), General Medicine, Reference Standards, medicine.disease, FMR1, Molecular biology, Fragile X syndrome, 030104 developmental biology, Fragile X Syndrome, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6d47f14906a0a736579ed66b4ad9e5
https://doi.org/10.1016/j.cca.2016.02.027

المؤلفون: Brian H.Y. Chung, Fai Man Lo, Mary Hoi Yin Tang, Chin Peng Lee, Tsz Kin Lo, Po Lam So, Shui Lam Mak, Wan Kam Chiu, Yvonne Kwun Yue Cheng, Kwan Yiu Cheuk, Anita Sik Yau Kan, Wai Kuen Yung, Sau Lan Mok

المصدر: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. 144(3)

مصطلحات موضوعية: Counseling, Male, medicine.medical_specialty, Genetic counseling, education, Sex Chromosome Disorders, Prenatal diagnosis, Genetic Counseling, 03 medical and health sciences, Sex chromosome aneuploidy, 0302 clinical medicine, Multidisciplinary approach, Pregnancy, Prenatal Diagnosis, Medicine, Humans, 030212 general & internal medicine, Information provision, Retrospective Studies, 030219 obstetrics & reproductive medicine, Sex Chromosomes, Health professionals, business.industry, Obstetrics and Gynecology, General Medicine, Aneuploidy, Obstetrics, Family medicine, Hong Kong, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20b8eb51a20797a8061b669611c68a55
https://pubmed.ncbi.nlm.nih.gov/30516269

المؤلفون: Chi Wai, Wong, Penelope Mei Yu, Or, Yubing, Wang, Lisha, Li, Jing, Li, Mingfei, Yan, Ye, Cao, Ho Ming, Luk, Tony Ming For, Tong, Nick R, Leslie, Ivan Fai-Man, Lo, Kwong Wai, Choy, Andrew Man Lok, Chan

المصدر: Autism Research

مصطلحات موضوعية: Male, PTEN, Autism Spectrum Disorder, Protein Stability, autism spectrum disorders, Blotting, Western, PTEN Phosphohydrolase, Fluorescent Antibody Technique, macrocephaly, Megalencephaly, Phosphoric Monoester Hydrolases, Phosphatidylinositol 3-Kinases, Neurodevelopmental Disorders, Mutation, Genetics, Hong Kong, Humans, Female, PTEN hamartoma tumor syndrome, Child, Cells, Cultured, Research Articles, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1ede229d21bc535e2e180c011660c0b1
https://pubmed.ncbi.nlm.nih.gov/29608813

المؤلفون: Po Lam, So, Kwun Yue Yvonne, Cheng, Kwan Yiu, Cheuk, Wan Kam, Chiu, Shui Lam, Mak, Sau Lan, Mok, Tsz Kin, Lo, Wai Kuen, Yung, Fai Man, Lo, Hon Yin Brian, Chung, Sik Yau Anita, Kan, Chin Peng, Lee, Hoi Yin Mary, Tang

المصدر: The journal of obstetrics and gynaecology research. 43(12)

مصطلحات موضوعية: Parents, Decision Making, Abortion, Induced, Aneuploidy, Ultrasonography, Prenatal, Pregnancy, Infertility, Karyotyping, Prenatal Diagnosis, Hong Kong, Humans, Female, Sex Chromosome Aberrations, Maternal Age, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3728ba2c5eb998e248800c98849a2d0d
https://pubmed.ncbi.nlm.nih.gov/28892214

المؤلفون: Yan Zhou, Jin Huang, Ritsuko K Pooh, Tak Yeung Leung, Fai Man Lo, Yvonne Kwun Yue Cheng, Kwong Wai Choy

المصدر: Prenatal Diagnosis. 34:296-298

مصطلحات موضوعية: medicine.medical_specialty, History, Obstetrics and gynaecology, business.industry, Family medicine, medicine, Obstetrics and Gynecology, China, business, Medical care, Genetics (clinical), Fetal medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a0a5a33973b6b6218e7435fce5680b1a
https://doi.org/10.1002/pd.4292