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Publications & Presentations
PubMed
- 13 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
American Journal of Medical Genetics. Part A. 2022-06-01 - 88 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
American Journal of Human Genetics. 2016-05-05