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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
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
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032
By:
- Kwong, Anna K.‐Y.;
- Chiu, Annie T.‐G.;
- Tsang, Mandy H.‐Y.;
- Lun, Kin‐Shing;
- Rodenburg, Richard J. T.;
- Smeitink, Jan;
- Chung, Brian H.‐Y.;
- Fung, Cheuk‐Wing
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

Found: 6

Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.

Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).