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Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03379-5
By:
- Chung, Claudia C. Y.;
- Fung, Jasmine L. F.;
- Lui, Adrian C. Y.;
- Chan, Marcus C. Y.;
- Ng, Yvette N. C.;
- Wong, Wilfred H. S.;
- Lee, So Lun;
- Knapp, Martin;
- Chung, Brian H. Y.
Publication type:
Article
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1640, doi. 10.1002/jgc4.1430
By:
- Hui, Vivian C. C.;
- Li, H. C.;
- Chow, Josh H. K.;
- Ng, Chris S. C.;
- Lui, Constance Y. W.;
- Fung, Jasmine L. F.;
- Mak, Christopher C.Y.;
- Chung, Brian H. Y.;
- Lau, Kui Kai
Publication type:
Article
'Do language and culture really matter?': A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 75, doi. 10.1002/jgc4.1385
By:
- Zayts‐Spence, Olga;
- Fung, Jasmine L. F.;
- Chung, Brian H. Y.
Publication type:
Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Published in:
2021
By:
- Vegas, Nancy;
- Low, Karen;
- Mak, Christopher C Y;
- Fung, Jasmine L F;
- Hing, Anne V;
- Chung, Brian H Y;
- Doherty, Dan;
- Amiel, Jeanne;
- Gordon, Christopher T
Publication type:
Letter
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report.
Published in:
Hong Kong Medical Journal, 2022, v. 28, n. 5, p. 406, doi. 10.12809/hkmj219513
By:
- Lam, H. Y.;
- Chan, Eugene Y. H.;
- Tung, Joanna Y. L.;
- Lee, Samantha L. K.;
- Fung, Jasmine L. F.;
- Lee, Mianne;
- Chung, Brian H. Y.;
- Ma, Alison L. T.
Publication type:
Article
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.
Published in:
Hong Kong Medical Journal, 2022, v. 28, n. 4, p. 328, doi. 10.12809/hkmj219503
By:
- Liu, Anthony P. Y.;
- Fung, Marcus K. L.;
- Lee, Mianne;
- Fung, Jasmine L. F.;
- Tsang, Mandy H. Y.;
- Luk, C. W.;
- Chung, Brian H. Y.;
- Chan, Godfrey C. F.
Publication type:
Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
By:
- Yeung, Kit San;
- Yu, Florrie N. Y.;
- Fung, Cheuk Wing;
- Wong, Sheila;
- Lee, Hencher H. C.;
- Fung, Sharon T. H.;
- Fung, Genevieve P. G.;
- Leung, Kwok Yin;
- Chung, Wai Hang;
- Lee, Yun Ting;
- Ng, Vivian K. S.;
- Yu, Mullin H. C.;
- Fung, Jasmine L. F.;
- Tsang, Mandy H. Y.;
- Chan, Kelvin Y. K.;
- Chan, Sophelia H. S.;
- Kan, Anita S. Y.;
- Chung, Brian H. Y.
Publication type:
Article
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205
By:
- Tsang, Mandy H. Y.;
- Chiu, Annie T. G.;
- Kwong, Bernard M. H.;
- Liang, Rui;
- Yu, Mullin H. C.;
- Yeung, Kit‐San;
- Ho, Wetor H. L.;
- Mak, Christopher C. Y.;
- Leung, Gordon K. C.;
- Pei, Steven L. C.;
- Fung, Jasmine L. F.;
- Wong, Virginia C. N.;
- Muntoni, Francesco;
- Chung, Brian H. Y.;
- Chan, Sophelia H. S.
Publication type:
Article
The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 187, doi. 10.1002/ajmg.c.31699
By:
- Zayts, Olga;
- Shipman, Hannah;
- Fung, Jasmine L.‐F.;
- Liu, Anthony P.‐Y.;
- Kwok, Sit‐Yee;
- Tsai, Anne C.‐H.;
- Yung, Tak‐Cheung;
- Chung, Brian H.‐Y.
Publication type:
Article
Rubinstein–Taybi syndrome in diverse populations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
By:
- Tekendo‐Ngongang, Cedrik;
- Owosela, Babajide;
- Fleischer, Nicole;
- Addissie, Yonit A.;
- Malonga, Bryan;
- Badoe, Ebenezer;
- Gupta, Neerja;
- Moresco, Angélica;
- Huckstadt, Victoria;
- Ashaat, Engy A.;
- Hussen, Dalia Farouk;
- Luk, Ho‐Ming;
- Lo, Ivan F. M.;
- Hon‐Yin Chung, Brian;
- Fung, Jasmine L. F.;
- Moretti‐Ferreira, Danilo;
- Batista, Letícia Cassimiro;
- Lotz‐Esquivel, Stephanie;
- Saborio‐Rocafort, Manuel;
- Badilla‐Porras, Ramses
Publication type:
Article
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1329, doi. 10.1002/ajmg.a.61567
By:
- Willis, Brooke R.;
- Lee, Mianne;
- Rethanavelu, Kavitha;
- Fung, Jasmine L. F.;
- Wong, Rosanna M. S.;
- Hui, Peter;
- Yeung, Kit S.;
- Lo, Ivan F. M.;
- Chung, Brian H. Y.
Publication type:
Article
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 279, doi. 10.1002/ajmg.a.61412
By:
- Rethanavelu, Kavitha;
- Fung, Jasmine L. F.;
- Chau, Jeffrey F. T.;
- Pei, Steven L. C.;
- Chung, Claudia C. Y.;
- Mak, Christopher C. Y.;
- Luk, Ho M.;
- Chung, Brian H. Y.
Publication type:
Article
Coffin–Lowry syndrome in Chinese.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2043, doi. 10.1002/ajmg.a.61323
By:
- Fung, Jasmine L. F.;
- Rethanavelu, Kavitha;
- Luk, Ho‐ming;
- Ho, Matthew S. P.;
- Lo, Ivan F. M.;
- Chung, Brian H. Y.
Publication type:
Article
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00144-x
By:
- Fung, Jasmine L. F.;
- Yu, Mullin H. C.;
- Huang, Shushu;
- Chung, Claudia C. Y.;
- Chan, Marcus C. Y.;
- Pajusalu, Sander;
- Mak, Christopher C. Y.;
- Hui, Vivian C. C.;
- Tsang, Mandy H. Y.;
- Yeung, Kit San;
- Lek, Monkol;
- Chung, Brian H. Y.
Publication type:
Article
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Published in:
BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0409-z
By:
- Leung, Gordon K C;
- Mak, Christopher C Y;
- Fung, Jasmine L F;
- Wong, Wilfred H S;
- Tsang, Mandy H Y;
- Yu, Mullin H C;
- Pei, Steven L C;
- Yeung, K S;
- Mok, Gary T K;
- Lee, C P;
- Hui, Amelia P W;
- Tang, Mary H Y;
- Chan, Kelvin Y K;
- Liu, Anthony P Y;
- Yang, Wanling;
- Sham, P C;
- Kan, Anita S Y;
- Chung, Brian H Y
Publication type:
Article
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30157
By:
- Wong, G. Y.;
- Hung, Zita G. K.;
- Ho, Karin K. H.;
- Ling, S. C.;
- Fung, Jasmine L. F.;
- Lee, Mianne;
- Chau, Jeffrey F. T.;
- Ha, S. Y.;
- Chung, Brian H. Y.
Publication type:
Article

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