Mutation research

Results: 253



#Item
121Rare diseases / Medicine / Fabry disease / Genetics / Enzymes / Galactosides / Lysosomal storage disease / Alpha-galactosidase / Mutation / Biology / Health / Lipid storage disorders

Andreotti et al. Orphanet Journal of Rare Diseases 2011, 6:66 http://www.ojrd.com/content[removed]RESEARCH Open Access

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Source URL: www.ncbi.nlm.nih.gov

Language: English
122Protein methods / Proteins / Mutation / Indel / Multiple sequence alignment / Sequence alignment / Homology modeling / STING / Protein structure prediction / Biology / Bioinformatics / Protein structure

Kim and Guo BMC Structural Biology 2010, 10:24 http://www.biomedcentral.com[removed]RESEARCH ARTICLE Open Access

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Source URL: www.ncbi.nlm.nih.gov

Language: English
123Carcinogenesis / Cancer research / Ras subfamily / Tumor suppressor gene / Oncogene / Phosphoinositide 3-kinase / Cancer / Mutation / Oncogenomics / Medicine / Oncology / Biology

Taking a hit or two 6 August 2012 Cancer only arises if two or more genes are mutated. Learning which combinations of mutations cause cancer represents an extremely laborious endeavor. In the current issue of the

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Source URL: medicalxpress.com

Language: English - Date: 2015-02-08 03:48:16
124Cancer organizations / Ribbon symbolism / Ovarian cancer / Cancer / Triple-negative breast cancer / Dana–Farber Cancer Institute / PARP inhibitor / BRCA1 / BRCA mutation / Medicine / Oncology / Breast cancer

Turning Point From the Susan F. Smith Center for Women’s Cancers at Dana-Farber Cancer Institute A Vision for Success Bridging research and clinical care in women’s cancers

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Source URL: www.dana-farber.org

Language: English - Date: 2011-07-14 16:37:07
125Rare diseases / Molecular biology / DNA / Familial dysautonomia / Hypokalemic periodic paralysis / Amyotrophic lateral sclerosis / Gene / Mutation / Hereditary sensory and autonomic neuropathy / Biology / Health / Genetics

Neurogenetics DNA/Biochemical Diagnostic Lab Massachusetts General Hospital Center for Human Genetic Research CRP Building North, Suite[removed]Cambridge Street Boston, MA 02114

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Source URL: www.massgeneral.org

Language: English - Date: 2014-08-13 08:02:15
126DNA / Mutation / Genetic genealogy / Single-nucleotide polymorphism / Collagen /  type I /  alpha 1 / DbSNP / Nucleic acid sequence / Point mutation / Biology / Genetics / Molecular biology

Basic research Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis Tariq Ahmad Masoodi, Mohammed A. Alsaif, Sulaiman A. Al Shammari, Adel A. Alhamdan

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Source URL: www.termedia.pl

Language: English
127Tumor suppressor genes / Cancer research / Tumor markers / Evolutionary biology / Genetics / Mutation / The Cancer Genome Atlas / Carcinogenesis / COSMIC cancer database / Medicine / Biology / Oncology

Bioinformatics Advance Access published January 7, 2015 MADGiC: a model-based approach for identifying driver genes in cancer Keegan D. Korthauer1 and Christina Kendziorski2

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Source URL: bioinformatics.oxfordjournals.org

Language: English - Date: 2015-01-08 02:37:03
128LMNA / Laminopathy / Emery–Dreifuss muscular dystrophy / Progeria / Limb-girdle muscular dystrophy / Dilated cardiomyopathy / Lamin / Nuclear lamina / Mutation / Health / Muscular dystrophy / Biology

c Indian Academy of Sciences  RESEARCH NOTE First report of a novel LMNA mutation in a Chinese family

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Source URL: www.ias.ac.in

Language: English - Date: 2015-01-06 06:22:19
129Newborn screening / Mutation / Methylmalonic acid / Chromosome 6 / Propionic acidemia / MMAA / Health / Rare diseases / Methylmalonic acidemia

RESEARCH NOTE Prenatal Identification of a novel mutation causing Methyl Malonic Acidemia in a family without proband. Ameya Paleja and Anuradha Udumudi

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Source URL: www.ias.ac.in

Language: English - Date: 2014-11-20 05:17:03
130Genetics / Evolution / Stress / Mutation / Microorganism / Biology / Evolutionary biology / Microbiology

NIH COMMON FUND HIGH-RISK HIGH-REWARD RESEARCH SYMPOSIUM DECEMBER 15 – 17, 2014 POSTER ABSTRACTS – SESSION 1 (DEC. 15, 2014) Stress-response balance drives the evolution of a newcomer network and its host genome Awar

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Source URL: www.capconcorp.com

Language: English - Date: 2014-12-04 19:01:41
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