Exome sequencing

Results: 272



#Item
261DNA sequencing / Exome sequencing / DNA / Mutation / Full genome sequencing / Biology / Genetics / Molecular biology

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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

Language: English
262Breast cancer / Mutation / Tumor markers / Tumor suppressor genes / Genetics / BRCA1 / BRCA mutation / Carcinogenesis / Exome sequencing / Medicine / Oncology / Biology

Clinical characteristics and prognosis of osteosarcoma in young children: a retrospective series of 15 cases

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

Language: English
263Bioinformatics / Maturity onset diabetes of the young / Hepatocyte nuclear factor 4 alpha / Exome sequencing / Permanent neonatal diabetes mellitus / International HapMap Project / Diabetes mellitus type 1 / Human genome / Dunnigan familial partial lipodystrophy / Biology / Diabetes / Genetics

CpGPAP: CpG island predictor analysis platform

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

Language: English
264Biotechnology / Genetics / DNA / Exome sequencing / Full genome sequencing / Polymerase chain reaction / Genotyping / Exome / 454 Life Sciences / Biology / Molecular biology / DNA sequencing

Exploring the gonad transcriptome of two extreme male pigs with RNA-seq

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

Language: English
265Classical genetics / Population genetics / DNA sequencing / Exome sequencing / Genomes Project / Genetic association / Full genome sequencing / Hardy–Weinberg principle / Allele frequency / Genetics / Biology / Molecular biology

Exploring the gonad transcriptome of two extreme male pigs with RNA-seq

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

Language: English
266DNA sequencing / Exome sequencing / Compound heterozygosity / Full genome sequencing / Mutation / Epilepsy / Chromosome 19 / Biology / Genetics / Molecular biology

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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

Language: English
267Molecular biology / DNA sequencing / Bioinformatics / Mathematical and theoretical biology / Genomics / Exome sequencing / Full genome sequencing / Illumina / FASTQ format / Biology / Science / Genetics

Surgical management of Diabetic foot ulcers: A Tanzanian university teaching hospital experience

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

Language: English
268Neurodegenerative disorders / Molecular biology / Spinocerebellar ataxia / Exome sequencing / Channelopathy / Ataxia / Mutation / Compound heterozygosity / Neurogenetics / Biology / Genetics / Health

Clinical significance of serological biomarkers and neuropsychological performances in patients with temporal lobe epilepsy

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

Language: English
269Aminoacyl tRNA synthetase / Glycyl—tRNA synthetase / Genetic code / Mutation / MFN2 / Exome sequencing / Mitochondrial disease / Charcot–Marie–Tooth disease / Transfer RNA / Biology / Genetics / Protein biosynthesis

The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro

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

Language: English
270Syndromes / DNA sequencing / Exome sequencing / Molecular biology / Medical genetics / Medical diagnosis / Personalized medicine / Cancer syndrome / Medicine / Health / Biology

Global analysis of DNA methylation in early-stage liver fibrosis

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

Language: English
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