Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: GNE[original query] |
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Validation of GNE:p.M712T identification by melting curve analysis. Genetic testing 2008 Mar 12 (1): 101-9. Valles-Ayoub Yadira, Saechao Chai, Haghighatgoo Arman, Neshat Mehran S, Esfandiarifard Saghi, Pietruszka Marvin, Darvish Dani |
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. Genetic testing and molecular biomarkers 2013 May 17 (5): 376-82. No Daniel, Valles-Ayoub Yadira, Carbajo Rosangela, Khokher Zeshan, Sandoval Lucia, Stein Beth, Tarnopolsky Mark Andrew, Mozaffar Tahseen, Darvish Babak, Pietruszka Marvin, Darvish Dani |
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. Journal of the neurological sciences 2015 Jul 354 (1-2): 21-6. Zhao Juan, Wang Zhaoxia, Hong Daojun, Lv He, Zhang Wei, Chen Juanjuan, Yuan Y |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clinical genetics 2016 Jul . Park Hyung Jun, Jang Hoon, Kim Ji Hye, Lee Jung Hwan, Shin Ha Young, Kim Seung Min, Park Kee Duk, Yim Sung-Vin, Lee Ji Hyun, Choi Young-Ch |
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle & nerve 2018 9 58 (5): 700-707. Alrohaif Hadil, Pogoryelova Oksana, Al-Ajmi Abdullah, Aljeryan Lulwa A, Alrashidi Nuwayer H, Alefasi Sara A, Urtizberea Andoni, Lochmüller Hanns, Bastaki Lai |
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. Journal of neuromuscular diseases 2018 2 5 (1): 85-92. Bhattacharya Sudha, Khadilkar Satish V, Nalini Atchayaram, Ganapathy Aparna, Mannan Ashraf U, Majumder Partha P, Bhattacharya Al |
Correction: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics 2018 12 64 (3): 269. Chen Yang, Xi Jianying, Zhu Wenhua, Lin Jie, Luo Sushan, Yue Dongyue, Cai Shuang, Sun Chong, Zhao Chongbo, Mitsuhashi Satomi, Nishino Ichizo, Xu Minjie, Lu Jiaho |
GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics 2018 11 64 (1): 11-16. Chen Yang, Xi Jianying, Zhu Wenhua, Lin Jie, Luo Sushan, Yue Dongyue, Cai Shuang, Sun Chong, Zhao Chongbo, Mitsuhashi Satomi, Nishino Ichizo, Xu Minjie, Lu Jiaho |
GNE genotype explains 20% of phenotypic variability in GNE myopathy. Neurology. Genetics 2019 3 5 (1): e308. Pogoryelova Oksana, Wilson Ian J, Mansbach Hank, Argov Zohar, Nishino Ichizo, Lochmüller Han |
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect. Thrombosis and haemostasis 2022 Jan . Zieger Barbara, Boeckelmann Doris, Anani Waseem, Falet Hervé, Zhu Jieqing, Glonnegger Hannah, Full Hermann, Andresen Felicia, Erlacher Miriam, Lausch Ekkehart, Fels Salome, Strahm Brigitte, Lang Peter, Hoffmeister Karin |
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? Neuromuscular disorders : NMD 2023 9 . Stella Mitrani-Rosenbaum, Ruben Attali, Zohar Arg |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
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- Page last updated:Apr 22, 2024
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