Healthcare delivery via telehealth during the COVID-19 pandemic: The experience of a Huntington’s disease clinic

by Jennifer Klapper, Tanya Bardakjian, Ian Sigal, Kavitha Muralidharan, Pedro Gonzalez-Alegre
Published 2021-01-01

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

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

by Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek
Published 2010-05-01