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Nature (London), ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 101 - 108
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Transcription. Transcription factor. Splicing. Rna processing | Molecular and cellular biology | Molecular genetics | Cell Line | Repetitive Sequences, Nucleic Acid - genetics | RNA Editing - genetics | Genomics | Humans | Molecular Sequence Annotation | Genes - genetics | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | DNA, Intergenic - genetics | Genome, Human - genetics | Regulatory Sequences, Nucleic Acid - genetics | Encyclopedias as Topic | RNA - genetics | DNA - genetics | RNA - biosynthesis | Polyadenylation - genetics | Sequence Analysis, RNA | Enhancer Elements, Genetic | RNA Splicing - genetics | Alleles | Transcription, Genetic - genetics | Protein Isoforms - genetics | Proteins | Gene expression | Genomes | Index Medicus | Genètica | Genoma humà | Life Sciences
Journal Article
Nature (London), ISSN 0028-0836, 2014, Volume 508, Issue 7496, pp. 345 - 350
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Chromatin - metabolism | Down Syndrome - pathology | Twins, Monozygotic - genetics | Chromosomes, Mammalian - genetics | Gene Expression Regulation - genetics | Histones - chemistry | Humans | Cells, Cultured | Genome - genetics | Male | Transcriptome - genetics | Chromosomes, Human, Pair 21 - genetics | Fetus - cytology | Animals | Down Syndrome - genetics | Fibroblasts | DNA Replication Timing | Female | Lysine - metabolism | Mice | Histones - metabolism | Methylation | Chromatin - chemistry | Induced Pluripotent Stem Cells - metabolism | Genetic research | Genetic aspects | Down syndrome | Research | Genetic regulation | Proteins | Studies | Cell culture | Hypotheses | Epigenetics | Genomes | Gene expression | Chromosomes | Experiments | Index Medicus
Journal Article
eLife, ISSN 2050-084X, 06/2013, Volume 2013, Issue 2, pp. e00523 - e00523
Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Transcription Factors - metabolism | DNA Methylation | Humans | Alleles | Cells, Cultured | Gene Expression Regulation | Polymerase Chain Reaction | Infant, Newborn | Transcription factors | Gene regulation | Genomes | Genetic diversity | Gene expression | Studies | Newborn babies | DNA methylation | Fibroblasts | Umbilical cord | Variation | Binding sites | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2017, Volume 100, Issue 3, pp. 444 - 453
imprinting | allele-specific expression | single cell | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Models, Theoretical | Cell Line | Genomic Imprinting | Gene Expression | Genetic Association Studies | Humans | Transcriptome | Genotyping Techniques | Sequence Analysis, RNA - methods | Single-Cell Analysis - methods | Alleles | Heterozygote | Fibroblasts - cytology | Polymorphism, Single Nucleotide | Fibroblasts - metabolism | Allelomorphism | Physiological aspects | Nucleotide sequencing | Gene expression | Observations | Methods | DNA sequencing | Binomial distribution | Ribonucleic acid--RNA | Genes | Genomics | Cells | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 70 - 80
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Humans | RNA, Messenger - genetics | DNA, Complementary - genetics | RNA, Messenger - metabolism | Phenotype | Sequence Analysis, RNA | Alleles | Heterozygote | Fibroblasts - cytology | Genome, Human | Single-Cell Analysis | DNA, Complementary - metabolism | Allelomorphism | Cell research | Fibroblasts | Genetic research | Genetic aspects | Research | Gene expression | Health aspects | Genotype & phenotype | Bias | Genomics | Deoxyribonucleic acid--DNA | Cells | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 4495 - 11
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Chromosomes, Human, Pair 13 - genetics | Chromosomes, Human, Pair 8 - genetics | Humans | Male | Gene Dosage | Gene Expression Profiling | Transcriptome - genetics | DNA Copy Number Variations | Phenotype | Trisomy - genetics | RNA-Seq | Alleles | Down Syndrome - genetics | Fibroblasts | Female | Mosaicism | Models, Genetic | Chromosomes, Human, Pair 18 - genetics | Single-Cell Analysis | Gene dosage | Trisomy | Genetic variability | Transcription | Copy number | Genes | Gene regulation | Aneuploidy | Stochasticity | Gene expression | Dosage | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 08/2014, Volume 5, Issue 1, pp. 4654 - 4654
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Down Syndrome - metabolism | Humans | Janus Kinase 2 - genetics | ras Proteins - metabolism | Male | Lymphocytes - cytology | Gene Expression Regulation, Leukemic | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - metabolism | DNA Mutational Analysis | Gene Deletion | Down Syndrome - genetics | Female | Mutation | Child | Receptors, Cytokine - genetics | Chromatin - chemistry | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 5690 - 5690
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Glioma - genetics | Genomic Instability | Gene Amplification | Neoplasm Grading | Glioblastoma - genetics | Glioma - pathology | Humans | Brain Neoplasms - pathology | Brain Neoplasms - genetics | DNA, Circular - genetics | Mutation | Index Medicus
Journal Article