Search Results - Lam, Tak-sum Stephen

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  1. 1
    Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady

    Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady by Shea, Yat-Fung, Lee, Chi-Ho, Gill, Harinder, Chow, Wing-Sun, Lam, Yui-Ming, Luk, Ho-Ming, Lam, Stephen Tak-Sum, Chu, Leung-Wing

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  2. 2
    A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

    A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy by Lo, Ivan Fai-man, Lai, Kent Keung-san, Tong, Tony Ming-for, Lam, Stephen Tak-sum

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  3. 3
    PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

    PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome by Or, Siu-Fong June, Tong, Ming-for Tony, Lo, Fai-Man Ivan, Law, Chi-Wai, Miu, Ting-Yat, Trochet, Delphine, Lam, Tak-Sum Stephen

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  4. 4
    Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

    Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome by Or, Siu-fong June, Tong, Ming-for Tony, Lo, Fai-man Ivan, Lam, Tak-sum Stephen

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  5. 5
    Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

    Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes by Chung, Brian Hon-Yin, Lam, Stephen Tak-Sum, Tong, Tony Ming-For, Li, Susanna Yuk-Han, Lun, Kin-Shing, Chan, Daniel Hon-Chuen, Fok, Susanna Fung-Shan, Or, June Siu-Fong, Smith, David Keith, Yang, Wanling, Lau, Yu-Lung

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  6. 6
    The impact of the multi-disciplinary molecular tumour board and integrative next generation sequencing on clinical outcomes in advanced solid tumours

    The impact of the multi-disciplinary molecular tumour board and integrative next generation sequencing on clinical outcomes in advanced solid tumours by El Helali, Aya, Lam, Tai-Chung, Ko, Elaine Yee-Ling, Shih, David J.H., Chan, Chun Kau, Wong, Charlene H.L., Wong, Jason W.H., Cheung, Lydia W.T., Lau, Johnny K.S., Liu, Anthony P.Y., Chan, Ann S.Y., Loong, Herbert H., Lam, Stephen Tak Sum, Chan, Godfrey Chi-Fung, Lee, Victor H.F., Yuen, Kwok Keung, Ng, Wai-Tong, Lee, Anne W.M., Ma, Edmond S.K.

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  7. 7
    Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

    Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort by Chong, Wilson Wai Sing, Lo, Ivan Fai Man, Lam, Stephen Tak Sum, Wang, Chi Chiu, Luk, Ho Ming, Leung, Tak Yeung, Choy, Kwong Wai

    Published in Molecular cytogenetics
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  8. 8
    A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

    A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient by Man, Elim, Tung, Yuet-Ling, Luk, Ho-Ming, Lo, Fai-Man Ivan, Lam, Tak-Sum Stephen, Cheung, Pik-To

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  9. 9
    IDENTIFICATION OF 7 NOVEL TRANSFORMING GROWTH FACTOR β RECEPTOR 2 MUTATIONS IN CHINESE PATIENTS WITH MARFAN SYNDROME

    IDENTIFICATION OF 7 NOVEL TRANSFORMING GROWTH FACTOR β RECEPTOR 2 MUTATIONS IN CHINESE PATIENTS WITH MARFAN SYNDROME by Chung, Brian Hon-Yin, Li, Susanna, Lam, Stephen Tak-Sum, Yang, Wanling, Lun, Kin-Shing, Lau, Yu-Lung

    Published in Pediatrics (Evanston)
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  10. 10
    IDENTIFICATION OF 7 NOVEL TRANSFORMING GROWTH FACTOR [beta] RECEPTOR 2 MUTATIONS IN CHINESE PATIENTS WITH MARFAN SYNDROME

    IDENTIFICATION OF 7 NOVEL TRANSFORMING GROWTH FACTOR [beta] RECEPTOR 2 MUTATIONS IN CHINESE PATIENTS WITH MARFAN SYNDROME by Chung, Brian Hon-Yin, Li, Susanna, Lam, Stephen Tak-Sum, Yang, Wanling, Lun, Kin-Shing, Lau, Yu-Lung

    Published in Pediatrics (Evanston)
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  11. 11
    Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome

    Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome by Lam, ACF, Lai, KKS, Chau, ATC, Lo, IFM, Lam, STS

    Published in Clinical genetics
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  12. 12
    dentification of Novel FBN1 and TGFBR2 Mutations n 65 Probands With Marfan Syndrome or Marfan-Like Phenotypes

    dentification of Novel FBN1 and TGFBR2 Mutations n 65 Probands With Marfan Syndrome or Marfan-Like Phenotypes by CHUNG, Brian Hon-Yin, LAM, Stephen Tak-Sum, LAU, Yu-Lung, TONG, Tony Ming-For, LI, Susanna Yuk-Han, LUN, Kin-Shing, CHAN, Daniel Hon-Chuen, FOK, Susanna Fung-Shan, OR, June Siu-Fong, SMITH, David Keith, WANLING YANG

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