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Publications & Presentations
PubMed
- 5 citationsPhenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gásdal Karstensen, Kwame Anyane-Yeboa, Jun Liao, Nan Jiang, Aliso...> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
- 79 citationsGermline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey...> ;American Journal of Human Genetics. 2016 May 5