खोज परिणाम - Chung, Brian H.Y.

Diffusion-Weighted MR Imaging in Neonatal Nonketotic Hyperglycinemia द्वारा Khong, Pek-Lan, Lam, Barbara C. C., Chung, Brian H. Y., Wong, Ka-Yin, Ooi, Gaik-Cheng

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations द्वारा Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

A fatal case of COQ7‐associated primary coenzyme Q(10) deficiency द्वारा 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

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China द्वारा Yu, Man Wai Cecilia, Fung, Jasmine Lee Fong, Ng, Amy Pui Pui, Li, Zhuo, Lan, Wang, Chung, Claudia Ching Yan, Li, Yang, Liu, Ying, Chung, Brian H. Y., Wong, William Chi Wai

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra) द्वारा 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.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS) द्वारा Michel, Megan E., Konczyk, Dennis J., Yeung, Kit San, Murillo, Rudy, Vivero, Matthew P., Hall, Amber M., Zurakowski, David, Adams, Denise, Gupta, Anita, Huang, August Y., Chung, Brian H.Y., Warman, Matthew L.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong द्वारा Kan, Anita S. Y., Lau, Elizabeth T., Tang, W. F., Chan, Sario S. Y., Ding, Simon C. K., Chan, Kelvin Y. K., Lee, C. P., Hui, Pui Wah, Chung, Brian H. Y., Leung, K. Y., Ma, Teresa, Leung, Wing C., Tang, Mary H. Y.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

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

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong द्वारा Tao, Victoria Q., Chan, Kelvin Y. K., Chu, Yoyo W. Y., Mok, Gary T. K., Tan, Tiong Y., Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W. Y., Lau, Elizabeth T., Kan, Anita S. Y., Tang, Mary H., Lau, Yu-lung, Chung, Brian H. Y.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients द्वारा Mak, Christopher C Y, Chow, Pak Cheong, Liu, Anthony P Y, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Leung, Gordon K C, Yeung, Kit San, Chau, Adolphus K T, Lowther, Chelsea, Scherer, Stephen W, Marshall, Christian R, Bassett, Anne S, Chung, Brian H Y

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

OMIC-07. FEASIBILITY AND UTILITY OF EPIGENOMIC PROFILING FOR CHILDHOOD CNS TUMORS IN HONG KONG द्वारा P.Y. Liu, Anthony, Ho, Ronnie S L, Li, Kay K W, Chan, Shing, Ku, Dennis T L, Fu, Eric, Luk, Chung-Wing, Yau, Jeffrey P W, Ling, Siu-Cheung, Chung, Brian H Y, Yang, Wanling, Kan, Amanda, Shing, Matthew M K, Ng, Ho-Keung, Chan, Godfrey C F

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

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

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies द्वारा 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.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

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

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

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

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis द्वारा Leung, Gordon K. C., Ying, Dingge, Mak, Christopher C. Y., Chen, Xin‐Ying, Xu, Weiyi, Yeung, Kit‐San, Wong, Wai‐Lap, Chu, Yoyo W. Y., Mok, Gary T. K., Chau, Christy S. K., McLuskey, Jenna, Ong, Winnie P. T., Leong, Huey‐Yin, Chan, Kelvin Y. K., Yang, Wanling, Chen, Jeng‐Haur, Li, Albert M., Sham, Pak C., Lau, Yu‐Lung, Chung, Brian H. Y., Lee, So‐Lun

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population द्वारा Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs द्वारा Chung, Claudia C.Y., Leung, Gordon K.C., Mak, Christopher C.Y., Fung, Jasmine L.F., Lee, Mianne, Pei, Steven L.C., Yu, Mullin H.C., Hui, Vivian C.C., Chan, Joshua C.K., Chau, Jeffrey F.T., Chan, Marcus C.Y., Tsang, Mandy H.Y., Wong, Wilfred H.S., Tung, Joanna Y.L., Lun, Kin Shing, Ng, Yiu Ki, Fung, Cheuk Wing, Wong, Mabel S.C., Wong, Rosanna M.S., Lau, Yu Lung, Chan, Godfrey C.F., Lee, So Lun, Yeung, Kit San, Chung, Brian H.Y.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes द्वारा Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa द्वारा Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें