Search Result "Mutator phenotype"


The Mutator Phenotype in Cancer: Molecular Mechanisms and Targeting Strategies

Journal: Current Drug Targets
Volume: 11 Issue: 1 Year: 2010 Page: 1296-1303
Author(s): Marc J. Prindle, Edward J. Fox, Lawrence A. Loeb

Research Article

Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers

Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 306-311
Author(s): X. Chen,X. Sheng,G. Liu,Y. Liu,H. Li,P. Xie,Q. Liu,B. Yan,C. Zhao

Research Article open access plus

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

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 1257-1262
Author(s): Anita Maasz, Katalin Komlosi, Kinga Hadzsiev, Zsolt Szabo, Patrick J. Willems, Imre Gerlinger, Gyorgy Kosztolanyi, Karoly Mehes, Bela Melegh

Research Article open access plus

Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype

Journal: Current Molecular Medicine
Volume: 18 Issue: 10 Year: 2018 Page: 689-697
Author(s): L. Chen,Y. Wei,W. Chi,D. Fang,X. Jiang,S. Zhang

Dentin Sialophosphoprotein (DSPP) Mutations: Implications in Dentinogenesis Imperfecta and Dentin Dysplasia

Ebook: Frontiers Between Science and Clinic in Odontology Volume Title: Phosphorylated Extracellular Matrix Proteins of Bone and Dentin
Volume: 2 Year: 2012
Author(s): J. Timothy Wright
Doi: 10.2174/978160805465711202010157

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

Research Article

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease

Journal: Current Genomics
Volume: 19 Issue: 1 Year: 2018 Page: 70-75
Author(s): Yuan Wu,Hong Xia,Jinzhong Yuan,Hongbo Xu,Xiong Deng,Jun Liu,Hao Zhang,Hao Deng

Modifiers of Risk in BRCA1/2 Mutation Carriers

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 23-29
Author(s): Stefano Pepe, Matilde Pensabene, Caterina Condello

Research Article

Genetic Modifiers of Fetal Haemoglobin (HbF) and Phenotypic Severity in β-Thalassemia Patients

Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 295-305
Author(s): S.A.A. Razak,N.A.A. Murad,F. Masra,D.L.S. Chong,N. Abdullah,N. Jalil,H. Alauddin,R.Z.A.R. Sabudin,A. Ithnin,L.C. Khai,N.A. Aziz,Z. Muda,H. Ibrahim,Z.A. Latiff

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