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A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies by Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek
Published 2017-09-01
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Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis by Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger
Published 2019-12-01
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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia by Weilai Dong, Karen H.Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger
Published 2022-06-01
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