Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: PRPF3[original query] |
---|
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. Molecular vision 2012 18 2398-410. Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G |
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Molecular vision 2013 19 654-64. de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu |
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Investigative ophthalmology & visual science 2016 Nov 57 (14): 6374-6381. Roberts Lisa, Ratnapriya Rinki, du Plessis Morné, Chaitankar Vijender, Ramesar Raj S, Swaroop Ana |
Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes. Scientific reports 2020 Nov 10 (1): 19193. Onengut-Gumuscu Suna, Paila Umadevi, Chen Wei-Min, Ratan Aakrosh, Zhu Zhennan, Steck Andrea K, Frohnert Brigitte I, Waugh Kathleen C, Webb-Robertson Bobbie-Jo M, Norris Jill M, Lange Leslie A, Rewers Marian J, Rich Stephen |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: