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Science translational medicine, ISSN 1946-6234, 09/2014, Volume 6, Issue 254, pp. 254ra126 - 254ra126
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Enterobacteriaceae - enzymology | United States | Humans | Cross Infection | Enterobacteriaceae - genetics | Hospitals, Public | beta-Lactamases - biosynthesis | National Institutes of Health (U.S.) | Plasmids | Bacterial Proteins - biosynthesis | Population Surveillance | Real-Time Polymerase Chain Reaction | Enterobacteriaceae - classification | Index Medicus
Journal Article
Scientific reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 14468 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Drug Resistance, Multiple - genetics | Bacterial Infections - drug therapy | Humans | Gastrointestinal Microbiome - genetics | Bacteria - genetics | India | Whole Genome Sequencing | Microbial Sensitivity Tests | Gram-Negative Bacteria - drug effects | Phenotype | Gastrointestinal Microbiome - drug effects | Anti-Bacterial Agents - pharmacology | Drug Resistance, Bacterial - drug effects | Drug Resistance, Multiple, Bacterial - genetics | Pathogens | Antibiotics | Gene transfer | Multidrug resistance | Bacteria | Antimicrobial agents | Genomes | Antimicrobial resistance | Gram-negative bacteria | Drug resistance | Index Medicus
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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 (London), ISSN 0028-0836, 10/2020, Volume 586, Issue 7831, pp. 683 - 692
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American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Social networks | Government agencies | Disease management | Medical diagnosis | Precision | Best practice | Index Medicus
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2016, Volume 29, Issue 8, pp. 893 - 899
type 1 diabetes mellitus | psychosocial morbidity | childhood psychopathological measurement schedule | children | Pediatrics | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Depression - epidemiology | Prognosis | Cross-Sectional Studies | Follow-Up Studies | Humans | Anxiety - psychology | Child, Preschool | Male | Diabetes Mellitus, Type 1 - complications | Morbidity | Depression - etiology | Psychiatric Status Rating Scales | Adolescent | Anxiety - epidemiology | Depression - psychology | Female | Social Adjustment | Child | Anxiety - etiology | Diabetes Mellitus, Type 1 - psychology | Adaptation, Psychological | Psychological aspects | Diagnosis | Type 1 diabetes | Child psychopathology | Distribution | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
Journal Article
Genetics (Austin), ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Index Medicus | genetic diseases | diagnostics | functional genomics | Review | zebrafish | human | whole-exome sequencing
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