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Publications

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Filters: Keyword is Carrier Proteins  [Clear All Filters]
2022
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series., Oh, Jin Kyun, Del Valle José G. Vargas, de Carvalho Jose Ronaldo Li, Sun Young Joo, Levi Sarah R., Ryu Joseph, Yang Jing, Nagasaki Takayuki, Emanuelli Andres, Rasool Nailyn, et al. , Orphanet J Rare Dis, 2022 04 01, Volume 17, Issue 1, p.146, (2022)
2016
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine., Mahajan, Vinit B., and Bassuk Alexander G. , Am J Hum Genet, 2016 Mar 03, Volume 98, Issue 3, p.590-591, (2016)
2011
Mutations in prickle orthologs cause seizures in flies, mice, and humans., Tao, Hirotaka, J Manak Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S., Yang Tian, Wu Shu, Chen Shan, et al. , American journal of human genetics, 2011 Feb 11, Volume 88, Issue 2, p.138-49, (2011)