Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 10 (of 10 Records) |
Query Trace: 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 |
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor and other hyperkinetic movements (New York, N.Y.) 2015 5 306. Salih Mustafa A, Seidahmed Mohammed Z, El Khashab Heba Y, Hamad Muddathir H A, Bosley Thomas M, Burn Sabrina, Myers Angela, Landsverk Megan L, Crotwell Patricia L, Bilguvar Kaya, Mane Shrikant, Kruer Michael |
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 |
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis. Clinical neurology and neurosurgery 2018 2 167 43-53. Mahdieh Nejat, Mikaeeli Sahar, Tavasoli Ali Reza, Rezaei Zahra, Maleki Majid, Rabbani Bahar |
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 |
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 11 43 (5): 3273-3281. Májovská Jitka, Hennig Anita, Nestrasil Igor, Schneider Susanne A, Jahnová Helena, Van??ková Manuela, Magner Martin, Dušek Pe |
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- Page last updated:Mar 25, 2024
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