Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Cerebellar Ataxia and ATM[original query] |
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Identification of two mutations for ataxia telangiectasia among the Druze community. Prenatal diagnosis 2004 May 24 (5): 358-62. Fares Fuad, Axelord Ran Sivan, David Miriam, Zelnik Nathanel, Hecht Yehudah, Khairaldeen Hasan, Lerner Aar |
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation. Journal of pediatric hematology/oncology 2010 1 32 (1): e28-30. Pietrucha Barbara Maria, Heropolita?ska-Pliszka Edyta, Wakuli?ska Anna, Skopczy?ska Hanna, Gatti Richard A, Bernatowska E |
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. Clinical genetics 2019 8 96 (6): 566-574. Shakya Sunil, Kumari Renu, Suroliya Varun, Tyagi Nishu, Joshi Aditi, Garg Ajay, Singh Inder, Kalikavil Puthanveedu Divya, Cherian Ajith, Mukerji Mitali, Srivastava Achal K, Faruq Mohamm |
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect. Human mutation 2019 4 40 (10): 1690-1699. Fiévet Alice, Bellanger Dorine, Valence Stéphanie, Mobuchon Lenha, Afenjar Alexandra, Giuliano Fabienne, Dubois d'Enghien Catherine, Parfait Béatrice, Pedespan Jean-Michel, Auger Nathalie, Rieunier Guillaume, Collet Agnès, Burglen Lydie, Stoppa-Lyonnet Dominique, Stern Marc-Hen |
A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation. Journal of pediatric neurosciences 2021 2 15 (3): 283-285. Mahale Rohan R, Reddy Nishanth, Mathuranth Pavagada, Mailankody Pooja, Padmanabha Hansashree, Retnaswami Chandra Sadnaval |
Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. European journal of medical genetics 2023 4 104766. Sweta Das, Maya Thomas, Sangeetha Yoganathan, Karthik Muthusamy, Anitha M Barney, Suneetha Susan Cleave A, Atanu Kumar Dutta, Rekha A, Sony Mohan, Sumita Dan |
Causative mechanisms and clinical impact of immunoglobulin deficiencies in Ataxia Telangiectasia. The Journal of allergy and clinical immunology 2024 1 . Sanami Takada, Thomas J Weitering, Nienke J H van Os, Likun Du, Ingrid Pico-Knijnenburg, Thomas B Kuipers, Hailiang Mei, Elisabeth Salzer, Michèl A A P Willemsen, Corry M R Weemaes, Qiang Pan-Hammarstrom, Mirjam van der Bu |
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- Page last updated:May 06, 2024
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