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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and TULP1[original query]
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
PloS one 2014 9 (9): e108721.
Katagiri Satoshi, Akahori Masakazu, Sergeev Yuri, Yoshitake Kazutoshi, Ikeo Kazuho, Furuno Masaaki, Hayashi Takaaki, Kondo Mineo, Ueno Shinji, Tsunoda Kazushige, Shinoda Kei, Kuniyoshi Kazuki, Tsurusaki Yohinori, Matsumoto Naomichi, Tsuneoka Hiroshi, Iwata Takes
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
Acta ophthalmologica 2015 Oct .
Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johan
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237.
Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya
The genetic aetiology of retinal degeneration in children in Finland - new founder mutations identified.
Acta ophthalmologica 2019 May .
Avela Kristiina, Salonen-Kajander Riitta, Laitinen Arja, Ramsden Simon, Barton Stephanie, Rudanko Sirkka-Lii
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