Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Counseling and GAA[original query] |
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| Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Human genetics 2002 1 110 (1): 36-40. Juvonen Vesa, Kulmala Satu-Maria, Ignatius Jaakko, Penttinen Maila, Savontaus Marja-Lii |
| Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. Journal of neurology 2008 Jun 255 (6): 831-8. Wan L, Lee C-C, Hsu C-M, Hwu W-L, Yang C-C, Tsai C-H, Tsai F |
| High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. BMC medical genetics 2012 13 (1): 69. Rani Deepa Selvi, Nallari Pratibha, Priyamvada Singh, Narasimhan Calambur, Singh Lalji, Thangaraj Kumarasa |
| Hemoglobinopathy carrier prevalence in the United Arab Emirates: first analysis of the Dubai Health Authority premarital screening program results. Hemoglobin 2013 37 (4): 359-68. Belhoul Khawla M, Abdulrahman Mahera, Alraei Rafeeiah |
| Spectrum of ß-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population. Clinical biochemistry 2013 Dec 46 (18): 1865-8. Huang Sheng-Wen, Liu Xing-Mei, Li Gui-Fang, Su Li, Wu Xian, Wang Ru-L |
| Novel GAA mutations in patients with Pompe disease. Gene 2015 Apr 561 (1): 124-31. Turaça Lauro Thiago, de Faria Douglas Oliveira Soares, Kyosen Sandra Obikawa, Teixeira Valber Dias, Motta Fabiana Louise, Pessoa Juliana Gilbert, Rodrigues E Silva Marina, de Almeida Sandro Soares, D'Almeida Vânia, Munoz Rojas Maria Verônica, Martins Ana Maria, Pesquero João Bos |
| Genetic basis of hypertrophic cardiomyopathy in children. Clinical research in cardiology : official journal of the German Cardiac Society 2018 Aug . Rupp Stefan, Felimban Moataz, Schänzer Anne, Schranz Dietmar, Marschall Christoph, Zenker Martin, Logeswaran Thushiha, Neuhäuser Christoph, Thul Josef, Jux Christian, Hahn Andre |
| Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience. Cerebellum (London, England) 2019 Jun . Peluzzo Thiago Mazzo, Bonadia Luciana Cardoso, Donatti Amanda, Molck Miriam Coelho, Jardim Laura Bannach, Marques Wilson, Lopes-Cendes Iscia Teresinha, França Marcondes |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2023 12 99 104931. Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Lucie Guyant-Maréchal, Perrine Charles, Cecilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, Marion Simonetta-Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stevanin, Sandrine Noël, Anne-Laure Fauret-Amsellem, Melanie Bahlo, Paul J Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Du |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
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