Search Result "causative genetic mutation"

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Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort

Journal: Current Alzheimer Research
Volume: 18 Issue: 3 Year: 2021 Page: 265-272
Author(s): Chenhui Mao,Jie Li,Liling Dong,Xinying Huang,Dan Lei,Jie Wang,Shanshan Chu,Caiyan Liu,Bin Peng,Gustavo C. Román,Liying Cui,Jing Gao

Screening for Genetic Mutations. A Review

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 3 Issue: 1 Year: 2000 Page: 1-9
Author(s): Masato Tawata, Kaoru Aida, Toshimasa Onaya

Pharmacological Suppression of Premature Stop Mutations that Cause Genetic Diseases

Journal: Current Pharmacogenomics
Volume: 3 Issue: 4 Year: 2005 Page: 259-269
Author(s): K. M. Keeling, D. M. Bedwell

Frontotemporal Dementia Caused by CHMP2B Mutations

Journal: Current Alzheimer Research
Volume: 8 Issue: 3 Year: 2011 Page: 246-251
Author(s): A. M. Isaacs, P. Johannsen, I. Holm, J. E. Nielsen, FReJA Consortium

Genetic Factors as a Cause of Miscarriage

Journal: Current Medicinal Chemistry
Volume: 17 Issue: 2 Year: 2010 Page: 3431-3437
Author(s): N. Suzumori, M. Sugiura-Ogasawara

Syndromes Caused by the Mutations in GLI3 Gene

Journal: Current Pediatric Reviews
Volume: 6 Issue: 4 Year: 2010 Page: 219-225
Author(s): Ichiro Naruse, Etsuko Ueta, Yoshiki Sumino, Masaya Ogawa

High Throughput Screening of Genetic Mutations/Polymorphisms by Capillary Electrophoresis

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 3 Issue: 1 Year: 2000 Page: 11-25
Author(s): Jicun Ren

PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation

Journal: Current Drug Targets
Volume: 13 Issue: 9 Year: 2012 Page: 1204-1206
Author(s): Alisdair McNeill

Research Article

Effect of Disease Causing Missense Mutations on Intrinsically DisorderedRegions in Proteins

Journal: Protein & Peptide Letters
Volume: 29 Issue: 3 Year: 2022 Page: 254-267
Author(s): Hampapathalu A. Nagarajaram,Suryanarayana Seera

Cause and Consequences of Genetic and Epigenetic Alterations in Human Cancer

Journal: Current Genomics
Volume: 9 Issue: 6 Year: 2008 Page: 394-408
Author(s): B. Sadikovic, K. Al-Romaih, J. A. Squire, M. Zielenska

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