NSD1 mutations generate a genome-wide DNA methylation signature von Choufani, S., Cytrynbaum, C., Chung, B. H. Y., Turinsky, A. L., Grafodatskaya, D., Chen, Y. A., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M. T., Luk, H. M., Lo, I. F. M., Lam, S. T. S., Caluseriu, O., Stavropoulos, D. J., Reardon, W., Mendoza-Londono, R., Brudno, M., Gibson, W. T., Chitayat, D., Weksberg, R.

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Severe neonatal manifestations of Costello syndrome von Lo, I F M, Brewer, C, Shannon, N, Shorto, J, Tang, B, Black, G, Soo, M T, Ng, D K K, Lam, S T S, Kerr, B

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

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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series von Leung, W Y, Luk, H M, Vardhanabhuti, V, Gao, Y, Hui, K F, Lau, W Y, Young, T P H, Li, J T C, Fung, E L W, Chiu, A T G, Lo, I F M, Chung, B H Y, Cheung, Y F, Chan, S H S

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Lessons learnt from a genetic disease registry in Hong Kong von Lam, S T S, To, C H, Leung, K W, Yip, S P, Lo, I F M, Tsang, K P

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Whole exome sequencing for developmental delay and learning difficulties: abridged secondary publication von Kwok, S L J, Hau, W L E, Chan, T F, Lo, F M I, Fung, L W E, Tsui, S K W

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Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency von But, W M, Lo, I F M, Shek, C C, Tse, W Y, Lam, S T S

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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots von Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F.M., Zoghbi, Huda Y., Schanen, N. Carolyn, Francke, Uta

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Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study von Yau, E K C, Lo, I F M, Lam, S T S

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Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause von Lo, T K, Lo, I F M, Chan, W K, Tong, T M F, Lam, S T S

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Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series von Leung, W Y, Luk, H M, Vardhanabhuti, V, Gao, Y, Hui, K F, Lau, W Y, Young, T P H, Li, J T C, Fung, E L W, Chiu, A T G, Lo, I F M, Chung, B H Y, Cheung, Y F, Chan, S H S

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Dentatorubral-pallidoluysian atrophy in two Chinese families in Hong Kong von Yam, W K L, Wu, N S P, Lo, I F M, Ko, C H, Yeung, W L, Lam, S T S

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Correlation between the reflux finding score and the reflux symptom index in patients with laryngopharyngeal reflux von Gelardi, M, Silvestri, M, Ciprandi, G

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Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - the viewpoint of the otorhinolaryngologist von Gelardi, M, Silvestri, M, Ciprandi, G

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Relieving laryngopharingeral reflux (RELIEF) survey in otolaryngology - II the viewpoint of the patient von Gelardi, M, Silvestri, M, Ciprandi, G

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Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome von Lam, A C F, Lai, K K S, Chau, A T C, Lo, I F M, Lam, S T S

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Severe neonatal manifestations of Costello syndrome von Lo, I F M, Brewer, C, Shannon, N, Shorto, J, Tang, B, Black, G, Soo, M T, Ng, D K K, Lam, S T S, Kerr, B

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Interstitial dup(1p) with findings of Kabuki make-up syndrome von Lo, Ivan F.M., Cheung, Lauvena Y.K., Ng, Anita Y.Y., Lam, Stephen T.S.

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Burton skeletal dysplasia: The second case report von Lo, Ivan F.M., Roebuck, Derek J., Lam, Stephen T.S., Kozlowski, Kazimierz

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The structure and variability of Mars upper atmosphere as seen in MAVEN/IUVS dayglow observations von Jain, S. K., Stewart, A. I. F., Schneider, N. M., Deighan, J., Stiepen, A., Evans, J. S., Stevens, M. H., Chaffin, M. S., Crismani, M., McClintock, W. E., Clarke, J. T., Holsclaw, G. M., Lo, D. Y., Lefèvre, F., Montmessin, F., Thiemann, E. M. B., Eparvier, F., Jakosky, B. M.

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