نتائج البحث - Abhishek Malhotra
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 حسب Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
منشور في 2022Artigo -
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 حسب Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
منشور في 2023Errata/Corrigenda
أدوات البحث:
موضوعات ذات صلة
Biology
Allele
Ataxia
Gene
Genetics
Neuroscience
Trinucleotide repeat expansion
Antibiotic resistance
Antibiotics
Antimicrobial
Arthroplasty
Biochemical engineering
Broth microdilution
Clinical microbiology
Computer science
Engineering
Gold standard (test)
Immunology
Internal medicine
Medical microbiology
Medicine
Microbiology
Minimum inhibitory concentration
Penetrance
Periprosthetic
Phenotype
Surgery