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Physical medicine and rehabilitation clinics of North America, ISSN 1047-9651, 02/2020, Volume 31, Issue 1, p. 15
Journal Article
Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 13, pp. e1265 - e1268
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Brain - diagnostic imaging | Diagnosis, Differential | Humans | Neural Cell Adhesion Molecule L1 - genetics | Male | Brain - growth & development | Pregnancy | Young Adult | Magnetic Resonance Imaging | Ultrasonography, Prenatal | Hydrocephalus - diagnostic imaging | Female | Hydrocephalus - genetics | Infant, Newborn
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1126 - 1142
nonsense-mediated decay | POMP-related autoinflammation and immune dysregulation disease | primary immune deficiency | POMP | interferonopathy | autoinflammatory syndrome | PRAID | PID | core particle proteasome 20S | dominant negative | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inflammation - pathology | Humans | Male | RNA, Messenger - metabolism | Base Sequence | Interferon Type I - metabolism | Frameshift Mutation - genetics | Infant, Newborn | Cell Line | Genetic Predisposition to Disease | RNA, Messenger - genetics | Molecular Chaperones - genetics | Exons - genetics | Immunophenotyping | Mutant Proteins - metabolism | Mutation - genetics | Unfolded Protein Response | Syndrome | Phenotype | Endoplasmic Reticulum Stress | Immunologic Deficiency Syndromes - genetics | Family | Heterozygote | Nonsense Mediated mRNA Decay - genetics | Proteasome Endopeptidase Complex - metabolism | Autoimmunity | Medical colleges | Interferon | RNA | Immunodeficiency | Physiological aspects | Immunologic diseases | Genetic aspects | Research | Genetic variation | Risk factors | Index Medicus
Journal Article
The international journal of biochemistry & cell biology, ISSN 1357-2725, 03/2014, Volume 48, Issue 1, pp. 85 - 91
Stroke-like episodes | Nitric oxide synthase (NOS) | Lactic acidosis | Nitric oxide (NO) | Myopathy | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Citrulline - pharmacology | Mitochondria - genetics | Nitric Oxide - deficiency | Arginine - pharmacology | Humans | MELAS Syndrome - drug therapy | MELAS Syndrome - metabolism | Mitochondria - metabolism | Citrulline - therapeutic use | Mitochondria - drug effects | Arginine - therapeutic use | Nitric Oxide - metabolism | Mitochondrial DNA | Arginine | Health aspects | Nitric oxide | Cells | Medical genetics | Index Medicus | Mitochondria | Utilities | Precursors | Disorders | Biochemistry | Biology | Acidosis | Blood
Journal Article
JAMA neurology, ISSN 2168-6149, 05/2016, Volume 73, Issue 5, pp. 591 - 594
Journal Article
Genetics in medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1175 - 1185
leukemia | multiple congenital anomalies | autosomal recessive inheritance | cardiomyopathy | Noonan syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Child, Preschool | Genotype | Infant | Male | Transcription Factors - genetics | Noonan Syndrome - genetics | Noonan Syndrome - pathology | Exome - genetics | Pedigree | RNA Splicing - genetics | Adolescent | Female | Heterozygote | Mutation | Child | Genetic Linkage | Protein Isoforms - genetics | Siblings | Families & family life | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1127 - 1138
chloroquine | lysosomal pH | lysosomal membrane counterion | lysosomal storage disease | cutaneous albinism | ClC-7 antiporter | lysosomal hyperacidity | oculocutaneous albinism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Acids - chemistry | Oocytes - metabolism | Humans | Xenopus laevis | Infant | Male | Chloride Channels - genetics | Albinism - etiology | Fibroblasts - pathology | Lysosomal Storage Diseases - pathology | Genetic Variation | Animals | Lysosomes - metabolism | Albinism - metabolism | Albinism - pathology | Lysosomal Storage Diseases - metabolism | Female | Mice | Lysosomal Storage Diseases - etiology | Chloride Channels - physiology | Fibroblasts - metabolism | Hydrogen-Ion Concentration | Metabolism, Inborn errors of | Usage | Diagnosis | Nucleotide sequencing | Risk factors | DNA sequencing | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Osteochondrodysplasias - pathology | Humans | Child, Preschool | Musculoskeletal Abnormalities - pathology | Genetic Variation | Young Adult | Osteochondrodysplasias - genetics | Adult | Female | Child | Chromosomal Instability | Fibroblasts - metabolism | Genetic Association Studies | Cells, Cultured | Zebrafish | Fibroblasts - pathology | Mice, Knockout | Whole Exome Sequencing | Animals | NF-kappa B - genetics | Musculoskeletal Abnormalities - genetics | Adolescent | Alleles | Mice | DNA Damage | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
cell-cell adhesion | CDH2 | ACOG | N-cadherin | eye defects | genital defects | cardiac defects | corpus callosum | intellectual disability | Care and treatment | Cell adhesion | Nervous system | Degeneration | Genetic aspects | Research | Risk factors | Membrane proteins | Life Sciences | Cellular Biology | Human health and pathology | Report
Journal Article