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Physiological Reviews, ISSN 0031-9333, 01/2008, Volume 88, Issue 1, pp. 125 - 172
Life Sciences & Biomedicine | Physiology | Science & Technology | Liver - injuries | Phenotype | Animals | Hemostasis - physiology | Humans | Liver Diseases - pathology | Liver - physiology | Liver - cytology | Liver Cirrhosis | Liver Diseases - physiopathology | Control | Care and treatment | Liver diseases | Neurons | Bone marrow | Physiological aspects | Research | Liver function tests | Proteins | Genotype & phenotype | Liver | Cells | Index Medicus
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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
American journal of human genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 809 - 817
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Canada | Phenotype | Humans | Societies, Scientific - organization & administration | Rare Diseases - diagnosis | Genetic Association Studies - methods | Mutation | Consortia | Pediatrics | Genotype & phenotype | Genetic disorders | Genetic research | Medical diagnosis | Index Medicus
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European journal of pediatrics, ISSN 0340-6199, 8/2019, Volume 178, Issue 8, pp. 1207 - 1218
Multi-gene panel | Health implementation | Pediatrics | Medicine & Public Health | Medical management | Exome sequencing (ES) | Chromosomal microarray analysis | Genome-wide sequencing (GWS) | Genetic counselling | Life Sciences & Biomedicine | Science & Technology | Humans | Genetic Diseases, Inborn - genetics | Critical Illness | Male | Clinical Decision-Making - methods | Genetic Counseling | Genetic Testing - methods | Whole Exome Sequencing - methods | Patient Selection | Pilot Projects | Intensive Care Units, Neonatal | Microarray Analysis | Female | Outcome Assessment, Health Care | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Intensive Care, Neonatal - methods | Infants (Newborn) | Health counseling | DNA microarrays | Analysis | Genomics | Patient outcomes | Medical genetics | Genetic research | Neonatal intensive care | Infants | Neonates | Phenotypes | Intensive care | Genetic disorders | Decision making | Genomes | Infant mortality | Management | Patients | Genetic screening | Intensive care units | Diagnosis | Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 133, Issue 5, pp. 1458 - 1462.e7
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Caspases - immunology | Caspases - genetics | Humans | Neoplasm Proteins - immunology | Severe Combined Immunodeficiency - immunology | Homozygote | Severe Combined Immunodeficiency - genetics | Adolescent | Female | Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein | Mutation | Severe Combined Immunodeficiency - pathology | Neoplasm Proteins - genetics | Genetic research | Genetic aspects | Immunodeficiency | Medical genetics | Index Medicus | Abridged Index Medicus
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Journal of medical genetics, ISSN 0022-2593, 07/2015, Volume 52, Issue 7, pp. 431 - 437
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Canada | Genetics, Medical - methods | Humans | Genetic Diseases, Inborn - genetics | Genetics, Medical - trends | Translational Medical Research - trends | Translational Medical Research - methods | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Genome, Human - genetics | Sequence Analysis, DNA - trends | Genome-wide association studies | Genetic disorders | Medical societies | Beliefs, opinions and attitudes | Practice guidelines (Medicine) | Nucleotide sequencing | Diagnosis | Standards | Methods | Genetic screening | DNA sequencing | Index Medicus | Clinical Guidelines | Genome-Wide Sequencing | Position Statement | Canadian Healthcare System | Return of Results | 1506
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