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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinitis Pigmentosa and MAK[original query]
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Apr 17 (4): 285-90.
Venturini Giulia, Koskiniemi-Kuendig Hanna, Harper Shyana, Berson Eliot L, Rivolta Car
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Ophthalmology 2017 12 125 (5): 725-734.
Kimchi Adva, Khateb Samer, Wen Rong, Guan Ziqiang, Obolensky Alexey, Beryozkin Avigail, Kurtzman Shoshi, Blumenfeld Anat, Pras Eran, Jacobson Samuel G, Ben-Yosef Tamar, Newman Hadas, Sharon Dror, Banin Ey
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Orphanet journal of rare diseases 2020 2 15 (1): 32.
Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen
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