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Nature reviews. Genetics, ISSN 1471-0056, 05/2013, Volume 14, Issue 5, pp. 307 - 320
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Oligonucleotide Array Sequence Analysis - methods | Humans | Cytogenetics - methods | Mosaicism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Genomics - methods | Sequence Analysis, DNA | DNA Copy Number Variations | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1100 - 1110
genomic sequencing | health-care resource utilization | secondary findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prevalence | Genetic Testing - standards | Humans | Incidental Findings | Male | Genetic Testing - ethics | Disclosure | Health Knowledge, Attitudes, Practice | Patients | High-Throughput Nucleotide Sequencing - ethics | Exome | Health Care Costs | Decision Making - ethics | Health Personnel | Adult | Female | Intention | Whole Genome Sequencing - economics | Genetic Testing - economics | Genomics - methods | Whole Genome Sequencing - ethics | Consortia | Index Medicus
Journal Article
Seminars in cell & developmental biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
IDIOPATHIC MENTAL-RETARDATION | CYTOGENETIC SURVEY | 17Q21.31 MICRODELETION SYNDROME | LOW-LEVEL MOSAICISM | COMPARATIVE GENOMIC HYBRIDIZATION | COPY-NUMBER VARIATIONS | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | UMCG Approved | ARRAY-BASED TECHNOLOGY | OLIGONUCLEOTIDE MICROARRAY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Banding | Congenital Abnormalities - genetics | Humans | Karyotyping | Developmental Disabilities - genetics | Child | Chromosome Disorders - genetics | Usage | Care and treatment | Chromosome abnormalities | DNA microarrays | Child development deviations | Genetic aspects | Research | Diagnosis | Developmental disabilities | Genetic screening | Cytogenetics | Genetics | Congenital diseases | Genetic testing | Chromosomes | Index Medicus
Journal Article
Nature medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Pregnancy | Cell-Free Nucleic Acids | DNA | Humans | Prenatal Diagnosis | Female | Fetus | Prenatal Care | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics | Ethics | Genetic testing | Health education | Genomics | Index Medicus | ASHG Position Statement
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