Kathryn Garber


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Works 1-4 of 4


Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease

by Kathryn Garber; Andrew Escayg; Jennifer Wong; KM Butler; L Shapiro; JT Thelin; KA Mattison; PC Goldenberg; S Kubendran; GB Schaefer



Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

by Patricia P. Jumbo-Lucioni; Kathryn Garber; John Kiel; Ivo Baric; Gerard T. Berry; Annet Bosch; Alberto Burlina; Ana Chiesa; Maria Luz Couce Pico; Sylvia C. Estrada; Howard Henderson; Nancy Leslie; Nicola Longo; Andrew A. M. Morris; Carlett Ramirez-Farias; Susanne Schweitzer-Krantz; Catherine Lynn T. Silao; Marcela Vela-Amieva; Susan Waisbren; Judith L. Fridovich-Keil