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The New England journal of medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics | Index Medicus | Abridged Index Medicus
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The Lancet (British edition), ISSN 0140-6736, 02/2020, Volume 395, Issue 10224, pp. 565 - 574
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genome, Viral | Bronchoalveolar Lavage Fluid - virology | Coronavirus Infections - diagnosis | Receptors, Virus - metabolism | Disease Reservoirs - virology | Humans | China - epidemiology | Phylogeny | Betacoronavirus - metabolism | COVID-19 | Coronavirus Infections - transmission | Pneumonia, Viral - transmission | SARS-CoV-2 | Sequence Alignment | Coronavirus Infections - epidemiology | Coronavirus Infections - virology | Pneumonia, Viral - epidemiology | Pneumonia, Viral - diagnosis | DNA, Viral - genetics | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Betacoronavirus - genetics | Pneumonia, Viral - virology | Epidemiology | Analysis | Epidemics | Pneumonia | Divergence | Biological evolution | Viral diseases | Seafood | Amino acids | Homology | Viruses | Genomes | Infections | Angiotensin-converting enzyme 2--ACE2 | Gene sequencing | Microorganisms | Next-generation sequencing | Bronchoalveolar lavage | Modelling | Alveoli | Deoxyribonucleic acid--DNA | Binding | Lavage | Pathogens | Research & development--R&D | Severe acute respiratory syndrome | Bronchus | Coronaviruses | Mammals | Disease control | Infectious diseases | Disease transmission | Respiratory diseases | Angiotensin | Fatalities | Software | Structural analysis | Index Medicus | Abridged Index Medicus
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Genome medicine, ISSN 1756-994X, 09/2018, Volume 10, Issue 1, pp. 74 - 74
Prenatal | Fetal structural abnormalities | Single-gene disorder | Mendelian disease | Exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Diseases, Inborn - diagnostic imaging | Fetus - diagnostic imaging | Phenotype | Ultrasonography, Prenatal | Humans | Genetic Diseases, Inborn - genetics | Fetus - pathology | Inheritance Patterns - genetics | Family | Whole Exome Sequencing | Usage | Genetic disorders | Diagnosis | Research | Ultrasonic waves | Pediatrics | Congenital diseases | Laboratories | Fetuses | Tissue culture | Pregnancy | Ultrasonic imaging | Prenatal diagnosis | Genetic counseling | Etiology | Autopsy | Genetics | Ultrasound | Index Medicus
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Genetics in medicine, ISSN 1098-3600, 10/2020, Volume 22, Issue 10, pp. 1633 - 1641
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Expert review of molecular diagnostics, ISSN 1473-7159, 06/2018, Volume 18, Issue 6, pp. 531 - 542
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The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1152 - 1156.e10
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Human genetics, ISSN 0340-6717, 04/2017, Volume 136, Issue 4, pp. 377 - 386
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Language Development Disorders - genetics | Humans | Autism Spectrum Disorder - complications | Child, Preschool | Infant | Intellectual Disability - complications | Male | DNA Copy Number Variations | Haploinsufficiency | Intellectual Disability - genetics | Language Development Disorders - complications | Carrier Proteins - genetics | Adolescent | Facies | Female | Ubiquitin-Protein Ligases - genetics | Child | Cohort Studies | Ubiquitin | Autism | Medical colleges | DNA microarrays | Ligases | Analysis | Genes | Index Medicus | Life Sciences | Human health and pathology | copy-number variants | chromosomal microarray | whole exome sequencing
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JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - e173438
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data | Index Medicus | Abridged Index Medicus
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The international journal of biochemistry & cell biology, ISSN 1357-2725, 09/2019, Volume 114, pp. 105570 - 105570
Angiogenesis | Wound healing | miR-21 | Fibroblast migration | Microvesicle | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Skin - metabolism | Humans | Cell-Derived Microparticles - transplantation | Male | Wound Healing | Skin - injuries | MicroRNAs - pharmacology | Diabetes Mellitus, Experimental - therapy | Wounds and Injuries - metabolism | Wounds and Injuries - therapy | Cell-Derived Microparticles - pathology | Cell-Derived Microparticles - metabolism | Diabetes Mellitus, Experimental - metabolism | Skin - pathology | Fibroblasts - metabolism | Cell Line | Wounds and Injuries - pathology | Rats | Fibroblasts - pathology | Rats, Sprague-Dawley | Skin - blood supply | Keratinocytes - pathology | Animals | Keratinocytes - metabolism | Diabetes Mellitus, Experimental - pathology | Neovascularization, Physiologic | Index Medicus
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