Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
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Journal Article
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
Luk, H.M, Wong, Vincent C.H, Lo, Ivan F.M, Chan, Kelvin Y.K, Lau, Elizabeth T, Kan, Anita S.Y, Tang, Mary H.Y, Tang, W.F, She, Wandy M.K, Chu, Yoyo W.Y, Sin, W.K, Chung, Brian H.Y
Published in European journal of medical genetics (01.02.2014)
Published in European journal of medical genetics (01.02.2014)
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Journal Article
Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
Mensah, Albert K, De Luca, Vincenzo, Stachowiak, Beata, Noor, Abdul, Windpassinger, Christian, Lam, Stephen T.S, Kennedy, James L, Scherer, Stephen W, Lo, Ivan F.M, Vincent, John B
Published in Schizophrenia research (01.09.2007)
Published in Schizophrenia research (01.09.2007)
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Journal Article
Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome
Tong, Tony M F, Hau, Edgar W L, Lo, Ivan F M, Chan, Daniel H C, Lam, Stephen T S
Published in Chinese medical journal (20.09.2005)
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Published in Chinese medical journal (20.09.2005)
Journal Article
KBG syndrome in a Chinese population: A case series
Ho, Stephanie, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Prader–Willi Syndrome: 16-Year Experience in Hong Kong
Lo, Ivan F.M., Luk, Ho Ming, Tong, Tony M.F., Lai, Kent K.S., Chan, Daniel H.C., Lam, Albert C.F., Chan, David K.H., Hau, Edgar W.L., Fung, Connie O.Y., Lam, Stephen T.S.
Published in Journal of genetics and genomics (20.04.2012)
Published in Journal of genetics and genomics (20.04.2012)
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Journal Article
Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review
Ho, Stephanie, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Journal Article
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations
Yu, Pui Tak, Luk, Ho‐Ming, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Journal Article
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature
Cheng, Shirley S. W., Chan, Pui Kwan Joyce, Luk, Ho‐Ming, Mok, Myth Tsz‐Shun, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers
Ho, Stephanie K. L., Ng, Samuel Y. L., Yung, Tsz‐Kwai, Mok, Myth T. S., Yiu, Wing‐Chung, Cheng, Heidi H. Y., Cheng, Shirley S. W., Luk, Ho‐ming, Lo, Ivan F. M., Kan, Anita S. Y.
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
Williams–Beuren syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome
Cheng, Shirley S. W., Luk, Ho‐Ming, Mok, Myth Tsz‐Shun, Leung, Sha‐Sha, Lo, Ivan F. M.
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Cheng, Shirley S. W., Chan, Kelvin Y. K., Leung, Kelphen K. P., Au, Patrick K. C., Tam, Wai‐Keung, Li, Samuel K. M., Luk, Ho‐Ming, Kan, Anita S. Y., Chung, Brian H. Y., Lo, Ivan F. M., Tang, Mary H. Y.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2019)
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Journal Article
Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick E., Garvin, A. Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan F. M., Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Robert M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Journal Article
Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell
Leung, Henry C M, Yu, Huijing, Zhang, Yifan, Leung, Wing Sze, Lo, Ivan F M, Luk, Ho Ming, Law, Wai-Chun, Ma, Ka Kui, Wong, Chak Lim, Wong, Yat Sing, Luo, Ruibang, Lam, Tak-Wah
Published in Scientific reports (16.03.2022)
Published in Scientific reports (16.03.2022)
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Journal Article
Prenatal phenotype of Kabuki syndrome: A case series and literature review
So, Po Lam, Luk, Ho Ming, Cheung, Ka Wang, Hui, Winnie, Chung, Man Yan, Mak, Annisa S. L., Lok, Wing Yi, Yu, Kris Pui Tak, Cheng, Shirley S. W., Hau, Edgar W. L., Ho, Stephanie, Lam, Stephen T. S., Lo, Ivan F. M.
Published in Prenatal diagnosis (01.08.2021)
Published in Prenatal diagnosis (01.08.2021)
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Journal Article