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Genetics in medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 965 - 975
Mowat–Wilson syndrome | ZEB2 | management | intellectual disability | Hirschsprung | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Hirschsprung Disease - genetics | Child, Preschool | Genetic Association Studies - methods | Microcephaly - diagnosis | Genotype | Infant | Male | Intellectual Disability - genetics | Hirschsprung Disease - diagnosis | Phenotype | Intellectual Disability - diagnosis | Adolescent | Facies | Zinc Finger E-box Binding Homeobox 2 - genetics | Adult | Female | Mutation | Child | Abnormalities, Multiple - genetics | Genotype & phenotype | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 50 - 57
next-generation sequencing | Alport syndrome | DNA sequencing | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Glomerulonephritis | General aspects. Genetic counseling | Nephropathies. Renovascular diseases. Renal failure | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Molecular Sequence Data | Nephritis, Hereditary - genetics | Genotype | Male | DNA Mutational Analysis - methods | Autoantigens - genetics | Genetic Testing - methods | Nephritis, Hereditary - diagnosis | Pilot Projects | Pedigree | Base Sequence | Adolescent | Collagen Type IV - genetics | Adult | Mutation | Genome, Human | Child | Transplants & implants | Nucleotide sequence | Exons | Genes | Genomes | Hearing impairment | Males | Patients | Period protein | Nephropathy | Collagen | Kidney diseases | Diagnosis | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences | Genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 2008, Volume 83, Issue 1, pp. 89 - 93
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Rett Syndrome - diagnosis | Humans | Models, Molecular | Molecular Sequence Data | Repressor Proteins - genetics | Brain - growth & development | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Protein Folding | Brain - metabolism | Nerve Tissue Proteins - chemistry | In Situ Hybridization | Forkhead Transcription Factors - chemistry | Protein Denaturation | Adult | Female | Protein Conformation | Transcription, Genetic | Mutation | Rett Syndrome - genetics | Child | Cohort Studies | Gene mutations | Analysis | Rett syndrome | Telencephalon | Genetic aspects | Genetic transcription | Research | Brain | Molecular biology | Gene expression | Neurons | Neurological disorders | Index Medicus | Report
Journal Article
BMC medicine, ISSN 1741-7015, 07/2016, Volume 14, Issue 1, pp. 106 - 106
Delirium | Prevalence | Hospital | Multicenter | 4AT | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Delirium - epidemiology | Prospective Studies | Cross-Sectional Studies | Humans | Logistic Models | Male | Inpatients - statistics & numerical data | Aged, 80 and over | Female | Italy - epidemiology | Surveys and Questionnaires | Aged | Odds Ratio | Delirium - diagnosis | Psychological aspects | Aged patients | Statistics | Health aspects | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 273 - 284
epilepsy | seizures | Mowat–Wilson syndrome | ZEB2 | EEG | Mowat-Wilson syndrome | Epilepsy | Seizures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Seizures - genetics | Humans | Hirschsprung Disease - genetics | Seizures - drug therapy | Child, Preschool | Male | Electroencephalography | Zinc Finger E-box Binding Homeobox 2 | Intellectual Disability - genetics | Young Adult | Seizures - physiopathology | DNA Mutational Analysis | Facies | Female | Microcephaly - physiopathology | Valproic Acid - therapeutic use | Retrospective Studies | Child | Microcephaly - drug therapy | Hirschsprung Disease - drug therapy | Hirschsprung Disease - physiopathology | Anticonvulsants - therapeutic use | Repressor Proteins - genetics | Homeodomain Proteins - genetics | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Phenotype | Adolescent | Mutation | Anopheles | Sleep | Genes | Genetic aspects | Birth defects | Seizures (Medicine) | Universities and colleges | College teachers | Index Medicus | Age
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 7/2019, Volume 34, Issue 7, pp. 1175 - 1189
Collagen IV genes | Pediatrics | Nephrology | Pathogenic variants | Medicine & Public Health | Alport syndrome | Next generation sequencing | Urology | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Practice guidelines (Medicine) | Alport's syndrome | Genetic aspects | Diagnosis | Pediatric research | Genetic screening | Standards | Methods | Phenotypes | Genetic disorders | Splicing | Mosaicism | Genetic factors | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 03/2015, Volume 52, Issue 3, pp. 163 - 174
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nephritis, Hereditary - pathology | Genetic Association Studies | Kidney - pathology | Humans | Middle Aged | Nephritis, Hereditary - genetics | Male | Autoantigens - genetics | Kidney - metabolism | Pedigree | Collagen Type IV - genetics | Adult | Female | Aged | Mutation | Alport's syndrome | Genetic aspects | Research | Gene mutations | Risk factors | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 02/2016, Volume 61, Issue 2, pp. 95 - 101
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Male | Mutation, Missense | Protein Domains - genetics | Genetic Diseases, X-Linked - diagnosis | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | Phenotype | Intellectual Disability - diagnosis | Adult | Female | Genetic Diseases, X-Linked - genetics | Child | Index Medicus
Journal Article