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Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Index Medicus | Life Sciences | Genetics
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Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 48 - 56
collagen VI | genetic counseling | COL6A2 | COL6A1 | COL6A3 | Ullrich congenital muscular dystrophy | Bethlem myopathy | Genetic counseling | Collagen VI | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Collagen Type VI - metabolism | Male | Contracture - genetics | Muscular Dystrophies - genetics | Muscles - pathology | Sclerosis - metabolism | Collagen Type VI - genetics | Young Adult | Sclerosis - pathology | Adult | Female | Child | Muscular Dystrophies - metabolism | Muscular Dystrophies - congenital | Contracture - pathology | Muscular Dystrophies - pathology | Sclerosis - genetics | Contracture - metabolism | Pedigree | Adolescent | Mosaicism | Aged | Mutation | Parenting | Nervous system diseases | Genetic disorders | Gene mutations | Collagen | Analysis | Medical genetics | Genetic aspects | Fibroblasts | Genotype & phenotype | Index Medicus
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The European respiratory journal, ISSN 0903-1936, 2018, Volume 51, Issue 2, pp. 1701809 - 1701809
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
Thorax, ISSN 0040-6376, 02/2019, Volume 74, Issue 2, pp. 203 - 205
rare lung diseases | paediatric lung disaese | bronchiectasis | primary ciliary dyskinesia | Life Sciences & Biomedicine | Respiratory System | Science & Technology | Heart | Studies | Biomedical research | Hospitals | Congenital diseases | Genes | Cardiovascular disease | Genetics | Mutation | Defects | Dyskinesia | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 12/2018, Volume 103, Issue 6, pp. 984 - 994
dynein | mutation | tomography | motile cilia | DNAH9 | situs inversus | primary ciliary dyskinesia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Respiratory System - pathology | Amino Acid Sequence | Humans | Axonemal Dyneins - genetics | Child, Preschool | Male | Mutation - genetics | Cilia - genetics | Sequence Alignment | Adolescent | Situs Inversus - genetics | Dyneins - genetics | High-Throughput Nucleotide Sequencing - methods | Child | Ciliary Motility Disorders - genetics | Rare diseases | Usage | Gene mutations | Cilia and ciliary motion | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | DNA sequencing | Index Medicus | Life Sciences | Report
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European journal of human genetics : EJHG, ISSN 1018-4813, 11/2013, Volume 21, Issue 11, pp. 1249 - 1252
nebulin | distal myopathy | next generation sequencing | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Distal Myopathies - pathology | Humans | Muscle, Skeletal - ultrastructure | Child, Preschool | Male | Mutation - genetics | Muscle Proteins - genetics | Magnetic Resonance Imaging | Distal Myopathies - genetics | Phenotype | Biopsy | Age of Onset | Adult | Muscle, Skeletal - pathology | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Neuromuscular diseases | Nuclear magnetic resonance--NMR | Exons | Genes | Childrens health | Rods | Genomes | Leg | Feet | N.M.R | Hospitals | Magnetic resonance imaging | Clonal deletion | Scoliosis | Nemaline myopathy | Alleles | Genetics | Children | Mutation | Age | Myopathy | Index Medicus
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Archives of disease in childhood, ISSN 0003-9888, 11/2020, Volume 105, Issue Suppl 2, pp. A5 - A5
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Archives of disease in childhood, ISSN 0003-9888, 11/2019, Volume 104, Issue Suppl 4, p. A7
Pediatrics | Phenotypes | Genomes | Patients | Genetic screening | Cohen syndrome | Microencephaly | DNA microarrays | Bone dysplasia | Skeleton | Children | Diagnosis | Genotypes
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Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Antigens, Neoplasm - genetics | Humans | Muscle, Skeletal - ultrastructure | Genes, Recessive | Exome | Lysosomes - metabolism | Proteins - metabolism | Biopsy | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Family | Consanguinity | Autophagy - genetics | Muscle, Skeletal - pathology | Mutation | Autophagy (Cytology) | Genetic disorders | Gene mutations | Syndromes | Genetic aspects | Health aspects | Multiple abnormalities | Cell culture | Biomedical research | Homeostasis | Kinases | Autophagy | Defects | Proteins | Studies | Musculoskeletal system | Microscopy | Genetics | Charitable foundations | Index Medicus
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Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 04/2020, Volume 127, Issue 4, pp. e22 - e23
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Brain (London, England : 1878), ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
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Brain (London, England : 1878), ISSN 0006-8950, 09/2016, Volume 139, Issue 9, pp. e53 - e53
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Clinical genetics, ISSN 0009-9163, 03/2020, Volume 97, Issue 3, pp. 509 - 515
phenotype | genetics | primary ciliary dyskinesia | Egypt | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Medical research | Gene mutations | Children's hospitals | Genetic research | Medicine, Experimental | Developing countries | Nucleotide sequencing | Genetic screening | Movement disorders | DNA sequencing | Primary ciliary dyskinesia | Genetic testing | Mutation | Developing countries--LDCs | Cilia | Dyskinesia | Index Medicus
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Thorax, ISSN 0040-6376, 02/2018, Volume 73, Issue 2, pp. 157 - 166
mutation | CCDC103 | genetic testing | respiratory tract | diagnosis | cilia | primary ciliary dyskinesia | Life Sciences & Biomedicine | Respiratory System | Science & Technology | Pakistan - ethnology | Microtubule-Associated Proteins - genetics | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Male | United Kingdom | Kartagener Syndrome - genetics | Mutation - genetics | Kartagener Syndrome - ethnology | Young Adult | Adolescent | Adult | Female | Child | Cohort Studies | Medical tests | Care and treatment | Usage | Genetic aspects | Kartagener syndrome | Diagnosis | Proteins | Motility | Microscopy | Genes | Diagnostic tests | Biochemistry | Mutation | Medical diagnosis | Patients | Defects | Dyskinesia | Index Medicus
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