Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: TULP1[original query] |
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Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
Gastroenterology 2012 Jul . Patin E, Kutalik Z, Guergnon J, Bibert S, Nalpas B, Jouanguy E, Munteanu M, Bousquet L, Argiro L, Halfon P, Boland A, Müllhaupt B, Semela D, Dufour JF, Heim MH, Moradpour D, Cerny A, Malinverni R, Hirsch H, Martinetti G, Suppiah V, Stewart G, Booth DR, George J, Casanova JL, Bréchot C, Rice CM, Talal AH, Jacobson IM, Bourlière M, Theodorou I, Poynard T, Negro F, Pol S, Bochud PY, Abel L |
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 |
FKBP5 genetic variants are associated with respiratory- and sleep-related parameters in Chinese patients with obstructive sleep apnea. Frontiers in neuroscience 2023 6 17 1170889. Anzhao Wang, Zhicheng Wei, Haolin Yuan, Yaxin Zhu, Yu Peng, Zhenfei Gao, Yuenan Liu, Jinhong Shen, Huajun Xu, Jian Guan, Shankai Yin, Feng Liu, Xinyi |
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