Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 7 (of 7 Records) |
| Query Trace: Gm1 Gangliosidosis[original query] |
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| Population analysis of the GLB1 gene in South Brazil. Genetics and molecular biology 2011 Jan 34 (1): 45-8. Baiotto Cléia, Sperb Fernanda, Matte Ursula, da Silva Cláudia Dornelles, Sano Renata, Coelho Janice Carneiro, Giugliani Rober |
| Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. JIMD reports 2013 10 1-9. Al-Jasmi Fatma A, Tawfig Nafisa, Berniah Ans, Ali Bassam R, Taleb Mahmoud, Hertecant Jozef L, Bastaki Fatma, Souid Abdul-Kad |
| A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing. Journal of human genetics 2015 Sep . Zhang Huiwen, Yang Rui, Wang Yu, Ye Jun, Han Lianshu, Qiu Wenjuan, Gu Xuef |
| Recurrent and novel GLB1 mutations in India. Gene 2015 Aug 567 (2): 173-81. Bidchol Abdul Mueed, Dalal Ashwin, Trivedi Rakesh, Shukla Anju, Nampoothiri Sheela, Sankar V H, Danda Sumita, Gupta Neerja, Kabra Madhulika, Hebbar Shrikiran A, Bhat Ramesh Y, Matta Divya, Ekbote Alka V, Puri Ratna Dua, Phadke Shubha R, Gowrishankar Kalpana, Aggarwal Shagun, Ranganath Prajnya, Sharda Sheetal, Kamate Mahesh, Datar Chaitanya A, Bhat Kamalakshi, Kamath Nutan, Shah Hitesh, Krishna Shuba, Gopinath Puthiya Mundyat, Verma Ishwar C, Nagarajaram H A, Satyamoorthy Kapaettu, Girisha Katta Moh |
| Rapid Targeted Genomics in Critically Ill Newborns. Pediatrics 2017 9 140 (4): . van Diemen Cleo C, Kerstjens-Frederikse Wilhelmina S, Bergman Klasien A, de Koning Tom J, Sikkema-Raddatz Birgit, van der Velde Joeri K, Abbott Kristin M, Herkert Johanna C, Löhner Katharina, Rump Patrick, Meems-Veldhuis Martine T, Neerincx Pieter B T, Jongbloed Jan D H, van Ravenswaaij-Arts Conny M, Swertz Morris A, Sinke Richard J, van Langen Irene M, Wijmenga Cis |
| Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
| Mongolian spots in GM1 gangliosidosis: a pictorial report. Clinical dysmorphology 2020 10 30 (1): 6-9. Mishra Shivani, Pai Pranita, Uttarilli Anusha, Girisha Katta Moh |
- Page last reviewed:Feb 1, 2024
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