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2018 1
2019 1
2020 0
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
NextGen Voices: Quality mentoring.
Segal L, Agarwal D, Isaacson KJ, Oehmke TB, Kumar B, Chen JS, Cusimano JM, Negi S, Tiper I, Bakermans AJ, Jensen MM, Sanganyado E, Zaidi SS, Romero-Molina C, Martínez SE, Anderson SM, Santos GM, De Lella Ezcurra AL, Farragher J, Sharma V, Duncan G, Dutton-Regester K, Kim SA, Yu S, Schwendimann BA, Reichardt JKV, Halder A, Dennis AF, Ellwanger JH, Chiu YH, Kerman BE. Segal L, et al. Science. 2018 Oct 5;362(6410):22-24. doi: 10.1126/science.aav5914. Science. 2018. PMID: 30287645 No abstract available.
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