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Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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Nature genetics, ISSN 1061-4036, 11/2014, Volume 46, Issue 11, pp. 1166 - 1169
Immunohistochemistry | Amino Acid Sequence | NIH 3T3 Cells | Protein Kinase C - genetics | Adenocarcinoma - pathology | Immunoprecipitation | Salivary Gland Neoplasms - genetics | Humans | Models, Molecular | Molecular Sequence Data | Sequence Analysis, DNA | Mutation, Missense - genetics | Microscopy, Confocal | Sequence Alignment | Animals | Mutagenesis | Protein Kinase C - chemistry | Adenocarcinoma - genetics | Mice | Salivary Gland Neoplasms - pathology | Adenocarcinoma | Genetic aspects | Gene mutations | Salivary gland tumors | Health aspects | Protein kinases | Studies | Medical research | Mutation | Kinases | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 01/2017, Volume 541, Issue 7637, pp. 359 - 364
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prostatic Neoplasms - pathology | Recurrence | Prognosis | Genomics | Humans | Male | Chromothripsis | Genome, Human - genetics | Prostatic Neoplasms, Castration-Resistant - genetics | Prostatic Neoplasms, Castration-Resistant - pathology | DNA Copy Number Variations | Neoplasm Metastasis - genetics | DNA Methylation | Exome - genetics | Prostatic Neoplasms - genetics | Mutation | Relapse | Analysis | Development and progression | Genetic aspects | Research | Prostate cancer | Cancer | Diseases | Studies | Genes | Medical prognosis | Genomes | Metastasis | Cancer therapies | Aggressiveness | Tumors | Index Medicus
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Journal of personalized medicine, ISSN 2075-4426, 06/2017, Volume 7, Issue 2, p. 3
Heart rate | Validation | Energy expenditure | Activity monitors | Fitness trackers | Mobile health | Cycles | Physical activity | Energy measurement | Watches | Heat measurement | Males | Telemetry | Wrist | Body mass index | Walking | Errors | Accuracy | Body mass | Calorimetry | Skin | Fitness | Wearable technology | Medicin och hälsovetenskap
Journal Article
Nature genetics, ISSN 1061-4036, 07/2015, Volume 47, Issue 7, pp. 736 - +
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prostatic Neoplasms - pathology | Genetic Association Studies | Humans | Middle Aged | Male | Genetic Heterogeneity | DNA Copy Number Variations | Point Mutation | Neoplasm Grading | Prostatic Neoplasms - genetics | Cell Line, Tumor | Polymorphism, Single Nucleotide | Proto-Oncogene Proteins c-myc - genetics | Genome, Human | Copy number variations | Development and progression | Genetic aspects | Properties | Prostate cancer | Identification and classification | Oncogenes | Medical research | Mortality | Genomes | Gene expression | Cancer therapies | Patients | Studies | Pathology | Biopsy | Men | Biomarkers | Tumors | Index Medicus
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Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Genetics in medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 159 - 163
PRKAR1A | long-read sequencing | structural variant | Carney complex | PacBio | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Genetic Predisposition to Disease | Echocardiography | Genetic Association Studies | Humans | Genetic Diseases, Inborn - genetics | Male | Genetic Variation | Phenotype | Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics | Genome, Human | Genomics - methods | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Genomes | Index Medicus
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Nature methods, ISSN 1548-7091, 06/2015, Volume 12, Issue 7, pp. 623 - 630
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Crowdsourcing | Algorithms | Neoplasms - genetics | Humans | Benchmarking | Polymorphism, Single Nucleotide | Genome | Care and treatment | Analysis | Genomes | Aberration | Research | Simulation methods | Cancer | Index Medicus
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Scientific reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 6451 - 9
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Muscle Strength - genetics | Humans | Male | United Kingdom | Cognition | Atrial Fibrillation - genetics | Coronary Disease - genetics | Biological Specimen Banks | Polymorphism, Single Nucleotide - genetics | Female | Genetic Variation - genetics | Genome-Wide Association Study - methods | Hand Strength | Quantitative Trait Loci - genetics | Fibrillation | Cognitive ability | Cardiovascular disease | Genomes | Genetic diversity | Muscular strength | Neurodevelopmental disorders | Gene expression | Heart diseases | Coronary artery disease | Index Medicus
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Bioinformatics (Oxford, England), ISSN 1367-4803, 06/2012, Volume 28, Issue 11, pp. 1546 - 1548
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Paraffin Embedding | Algorithms | MicroRNAs - analysis | Nanotechnology - methods | Nanotechnology - instrumentation | RNA, Messenger - analysis | Software | Index Medicus | Applications Note
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