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Renal failure, ISSN 0886-022X, 01/2021, Volume 43, Issue 1, pp. 62 - 70
Journal Article
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 10/2020, Volume 35, Issue 10, pp. 1877 - 1886
Pediatrics | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Complications and side effects | Demographic aspects | Genetic aspects | Children | Diagnosis | Kidney diseases | Liver cells | Health aspects | Magnesium deficiency diseases | Risk factors | Diseases | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2019, Volume 51, Issue 1, pp. 117 - 127
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Birth defects | Kidneys | Research | Copy number variations | Health aspects | Urinary organs | Enrichment | Congenital diseases | Congenital defects | Copy number | Genes | Genomes | Urinary tract | Chromosome 4 | Loci | Chromosome 1 | Autism | Pleiotropy | Congenital anomalies | Failure analysis | Renal failure | Population | Genetic engineering | Mutation | Urogenital system | Chromosome 16 | Index Medicus
Journal Article
Annals of internal medicine, ISSN 0003-4819, 01/2018, Volume 168, Issue 2, pp. 100 - 109
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | New York City | Exome - genetics | Genetic Predisposition to Disease | Humans | Middle Aged | Renal Insufficiency, Chronic - genetics | Adult | Female | Male | Mutation | Sequence Analysis, DNA - methods | Usage | Gene mutations | Chronic kidney failure | Exome sequencing | Genetic aspects | Research | Diagnosis | Adults | Kidney diseases | Disease management | Medical diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 1, pp. 85 - 94
d_article_not_yet_freely_accessible | Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | Transplantation | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 987 - 997
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Genetic Association Studies | Kidney Diseases - congenital | Humans | Molecular Sequence Annotation | Chromosome Aberrations | Genotype | Case-Control Studies | Kidney Diseases - genetics | DNA Copy Number Variations | Renal manifestations of general diseases | Causes of | Research | Copy number variations | Genetic variation | Genetic disorders | Congenital diseases | Kidneys | Kidney diseases | Medical diagnosis | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Medicine(all) | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Chromosome Deletion | Humans | Infant | Male | Urinary Tract - abnormalities | Zebrafish | Sequence Analysis, DNA | Haploinsufficiency | Exome | Young Adult | Animals | Kidney - abnormalities | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Female | Heterozygote | Models, Animal | Chromosomes, Human, Pair 22 | Mice | Nuclear Proteins - genetics | Child | DiGeorge Syndrome - genetics | Infant, Newborn | Genetics | Care and treatment | Diagnosis | Kidney diseases | Research | DiGeorge syndrome | Phenotypes | Kidneys | Nonsense mutation | Nervous system | Urinary tract | Gene deletion | Embryos | Defects | Chromosome 22 | Thymic hypoplasia | Urogenital system | Chromosomes | Index Medicus | Abridged Index Medicus | Life Sciences
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 06/2020, Volume 35, Issue Supplement_3
Journal Article
Renal failure, ISSN 0886-022X, 11/2016, Volume 38, Issue 10, pp. 1759 - 1762
uromodulin | Hyperuricemia | familial juvenile hyperuricemic nephropathy | children | Humans | Child, Preschool | Male | Mutation, Missense | Kidney Diseases - genetics | Young Adult | Hyperuricemia - genetics | Gout - therapy | DNA Mutational Analysis | Pedigree | Adolescent | Renal Insufficiency, Chronic - genetics | Kidney Diseases - therapy | Poland | Adult | Female | Gout - genetics | Uric Acid - blood | Hyperuricemia - therapy | Child | Uromodulin - genetics | Renal Dialysis | Index Medicus
Journal Article
Pediatric nephrology (Berlin, West), ISSN 0931-041X, 6/2019, Volume 34, Issue 6, pp. 1065 - 1075
Pediatrics | Nephrology | MODY | Medicine & Public Health | Cystic kidney disease | HNF1B | GFR decline | Urology | Hypomagnesemia | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Polycystic Kidney Diseases - genetics | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | Disease Progression | Kidney Failure, Chronic - genetics | Phenotype | Polycystic Kidney Diseases - pathology | Polycystic Kidney Diseases - physiopathology | Adolescent | Age of Onset | Female | Registries | Child | Germany | Hepatocyte Nuclear Factor 1-beta - genetics | Infant, Newborn | Development and progression | Genetic aspects | Children | Research | Pediatric research | Diseases | Phenotypes | Dysplasia | Liver | Heredity | Glomerular filtration rate | Genotype & phenotype | Renal insufficiency | Hyperglycemia | Hyperuricemia | Nephropathy | Cysts | Maternal inheritance | Genetic analysis | Genotypes | Index Medicus
Journal Article