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Human Genome
Human Genome
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Genomics / Adolescent / DNA repair / Gene expression / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms
Genomic identification and biochemical characterization of a second spermidine/spermine N 1-acetyltransferase
Biological Sciences / Cell line / Humans / Expressed Sequence Tags / Biochemical / Human Brain / Enzyme / High Pressure Liquid Chromatography / CHEMICAL SCIENCES / Human Genome / Substrate Specificity / Enzyme activity / Amino Acid Profile / Genome sequence / Amino Acid Sequence / Molecular Sequence Data / Human Brain / Enzyme / High Pressure Liquid Chromatography / CHEMICAL SCIENCES / Human Genome / Substrate Specificity / Enzyme activity / Amino Acid Profile / Genome sequence / Amino Acid Sequence / Molecular Sequence Data
Tecnologías de información y comunicación para la formación de documentalistas en genómica médica
Library and Information Studies / Health Science / Health Professionals / Internet Access / Human Genome
Aminoacylase I deficiency: A novel inborn error of metabolism
NMR Spectroscopy / Humans / Mutation / Animals / Inborn errors of metabolism / Male / Enzyme / Newborn Infant / Human Genome / Western blot / Protein Expression / Genetic Polymorphism / Gas Chromatography/mass Spectrometry / Arginine / Amino Acid Profile / Lymphocytes / Catalytic Activity / Glutamic Acid / Biochemistry and cell biology / DNA sequence / Male / Enzyme / Newborn Infant / Human Genome / Western blot / Protein Expression / Genetic Polymorphism / Gas Chromatography/mass Spectrometry / Arginine / Amino Acid Profile / Lymphocytes / Catalytic Activity / Glutamic Acid / Biochemistry and cell biology / DNA sequence
Larger Mammalian Body Size Leads to Lower Retroviral Activity
Evolutionary Biology / Microbiology / Immunology / Molecular Evolution / Medical Microbiology / Endogenous Retroviruses / Humans / Genome evolution / Animals / Animal Genomics / Body Size / Human Genome / Paleovirology / Species Specificity / Endogenous Retroviruses / Humans / Genome evolution / Animals / Animal Genomics / Body Size / Human Genome / Paleovirology / Species Specificity
Conserved RNA secondary structures promote alternative splicing
Algorithms / RNA / Gene expression / Protein Structure and Function / Humans / Sequence alignment / Animals / Alternative splicing / Genome Analysis / Site Selection / Human Genome / Alternative Splicing / RNA Structure / Base Sequence / RNA Secondary Structure / Nucleic Acid Conformation / Biochemistry and cell biology / Sequence alignment / Animals / Alternative splicing / Genome Analysis / Site Selection / Human Genome / Alternative Splicing / RNA Structure / Base Sequence / RNA Secondary Structure / Nucleic Acid Conformation / Biochemistry and cell biology
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool
Genomic imbalances in endometrial adenocarcinomas – Comparison of DNA ploidy, karyotyping and comparative genomic hybridization
Molecular Oncology / Humans / Female / Karyotyping / CGH / Human Genome / ANCA / Comparative Genomic Hybridization / Adenocarcinoma / Human Genome / ANCA / Comparative Genomic Hybridization / Adenocarcinoma
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Genetics / Genomics / Multidisciplinary / Nature / Acute Myeloid Leukemia / Humans / Mutation / United States / Skin / Recurrence / Human Genome / Targeted Therapy / Disease Progression / Genome sequence / Gene expression profiling / Case Control Studies / DNA sequence / Humans / Mutation / United States / Skin / Recurrence / Human Genome / Targeted Therapy / Disease Progression / Genome sequence / Gene expression profiling / Case Control Studies / DNA sequence
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Genomics / Cancer / Adolescent / DNA repair / Gene expression / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
Genetics / Genomics / Multidisciplinary / Nature / Acute Myeloid Leukemia / Humans / Mutation / United States / Skin / Recurrence / Human Genome / Targeted Therapy / Disease Progression / Genome sequence / Gene expression profiling / Case Control Studies / DNA sequence / Humans / Mutation / United States / Skin / Recurrence / Human Genome / Targeted Therapy / Disease Progression / Genome sequence / Gene expression profiling / Case Control Studies / DNA sequence
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Genomics / Cancer / Adolescent / DNA repair / Gene expression / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution
A population genetic approach to mapping neurological disorder genes using deep resequencing
Genetics / Schizophrenia / Population Genetics / Humans / Child / Mutation / Female / Male / Sample Size / Autism Spectrum Disorder / Human Genome / Analytical Method / Population Model / PLoS Genetics / Cohort Studies / Mutation / Female / Male / Sample Size / Autism Spectrum Disorder / Human Genome / Analytical Method / Population Model / PLoS Genetics / Cohort Studies
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Genomics / Adolescent / DNA repair / Gene expression / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
Genomics / Adolescent / DNA repair / Gene expression / Multidisciplinary / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution / Nature / Signal Transduction / Humans / Mutation / Glioblastoma / Female / Male / DNA methylation / Gene Dosage / Aged / Middle Aged / Human Genome / Adult / Retrospective Studies / Large Scale / DNA Copy Number / Multi Dimensional / Pilot project / Brain Neoplasms / Nucleotide substitution
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