UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
Journal Article
Clinical endocrinology (Oxford), ISSN 0300-0664, 05/2020, Volume 92, Issue 5, pp. 487 - 489
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 358 - 364
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 | Abnormalities, Multiple - pathology | Haploinsufficiency - genetics | Hypertrichosis - congenital | Growth Disorders - pathology | Histone-Lysine N-Methyltransferase | Humans | Molecular Sequence Data | Mutation - genetics | Sequence Analysis, DNA | Exome - genetics | Hypertrichosis - genetics | Myeloid-Lymphoid Leukemia Protein - genetics | Base Sequence | Hypertrichosis - pathology | Gene Components | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Body hair | Gene mutations | Growth | Proteus syndrome | Histones | Hypertrichosis | Causes of | Genetic aspects | Research | Diagnosis | Health aspects | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Mental disorders | Index Medicus | Hair | Enzymes | Body height | MLL protein | histone methyltransferase | Transcription | Catalysis | Methylation | Elbow | Mental retardation | Report
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3133 - 3137
SF3B4 | exome sequencing | Nager syndrome | Rodriguez acrofacial dysostosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Mandibulofacial Dysostosis - physiopathology | Male | RNA Splicing Factors - genetics | Abnormalities, Multiple - physiopathology | Mandibulofacial Dysostosis - genetics | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Fetus | Heterozygote | Mutation | Abnormalities, Multiple - genetics | Siblings | Genes | Genetic aspects | Index Medicus
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 11/2009, Volume 50, Issue 11, pp. 2501 - 2503
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Allelic Imbalance - genetics | Humans | Child, Preschool | In Situ Hybridization, Fluorescence | Infant | Male | Spasms, Infantile - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 19 - genetics | Comparative Genomic Hybridization | Gene Deletion | Epilepsy - genetics | Gene Rearrangement - genetics | Calcium Channels - genetics | Mental illness | Epilepsy
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 44 - 50
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Nephritis, Hereditary - pathology | Exons | Humans | Middle Aged | Child, Preschool | Male | Genes, Dominant | Patella - abnormalities | Adult | Female | Child | Ilium - abnormalities | Gene Expression | Scapula - abnormalities | Nails - metabolism | Introns | Nail-Patella Syndrome - genetics | Ocular Hypertension - pathology | Nephritis, Hereditary - genetics | Transcription Factors - genetics | Ilium - metabolism | Scapula - metabolism | Nails - pathology | Sequence Analysis, DNA | Genetic Heterogeneity | Polymorphism, Genetic | Ocular Hypertension - genetics | LIM-Homeodomain Proteins - genetics | Nail-Patella Syndrome - pathology | Phenotype | Patella - metabolism | Adolescent | Glaucoma - pathology | Glaucoma - genetics | Glaucoma | Hypertension | Phenotypes | Dysplasia | Transcription factors | Nail-patella syndrome | Scapula | Homeobox | Hypotheses | Nephropathy | Genetics | Horns | Mutation | Elbow | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 671 - 678
EDAR | ectodermal dysplasia | WNT10A | EDA | oligodontia | Oligodontia | Ectodermal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Genetic Association Studies | Anodontia - complications | Humans | Molecular Sequence Data | Genotype | Male | Edar Receptor - genetics | Anodontia - genetics | Phenotype | Sequence Alignment | Wnt Proteins - genetics | Ectodermal Dysplasia - complications | Female | Ectodermal Dysplasia - genetics | Mutation | Invisibility | Genetic aspects | Index Medicus | Dysplasia
Journal Article
Journal of medical genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation | Index Medicus
Journal Article
9.
Full Text
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Human mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1246 - 1261
mutation screening | genetics | Adams–Oliver syndrome | Notch signaling | Rho GTPase | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Genetic Association Studies | rho GTP-Binding Proteins - genetics | Humans | Scalp Dermatoses - physiopathology | Limb Deformities, Congenital - physiopathology | Male | Receptors, Notch - genetics | Ectodermal Dysplasia - physiopathology | Scalp - physiopathology | Pedigree | Female | Ectodermal Dysplasia - genetics | Mutation | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Extremities - physiopathology | Genetic research | Analysis | Genetic screening | Phenotypes | Aplasia | Scalp | Heritability | Skin | Heredity | Genotypes | s
Journal Article
Journal of medical genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 432 - 440
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Male | Young Adult | Cerebellar Diseases - pathology | Adult | Female | Malformations of Cortical Development - pathology | Child | Cells, Cultured | Exons - genetics | Collagen Type III - genetics | Malformations of Cortical Development - genetics | Fibroblasts - pathology | Mutation - genetics | Cysts - pathology | White Matter - pathology | Exome - genetics | Phenotype | Cerebellar Diseases - genetics | Alleles | Cysts - genetics | Ligands | Receptors, G-Protein-Coupled - genetics | Neuronal migration disorders | Care and treatment | Research | G proteins | Homozygosity | Collagen | Index Medicus
Journal Article
The Journal of thoracic and cardiovascular surgery, ISSN 0022-5223, 2013, Volume 145, Issue 5, pp. 1297 - 1304.e2
Cardiothoracic Surgery | Cardiac & Cardiovascular Systems | Respiratory System | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Surgery | Science & Technology | Rabbits | Tissue Engineering - methods | Genes, sry | Cells, Cultured | Prosthesis Implantation - instrumentation | Mesenchymal Stromal Cells - metabolism | In Situ Hybridization, Fluorescence | Male | Green Fluorescent Proteins - genetics | Trachea - metabolism | Prosthesis Design | Tissue Scaffolds | Trachea - pathology | Regeneration | Animals | Transfection | Time Factors | Green Fluorescent Proteins - biosynthesis | Female | Trachea - physiopathology | Stents | Mesenchymal Stem Cell Transplantation | Trachea - surgery | Aorta - transplantation | Physiological aspects | Universities and colleges | Analysis | Stem cells | Index Medicus | Abridged Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 104 - 104
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1118 - 1125
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Ear Diseases - genetics | Signal Transduction | Ear Diseases - metabolism | Endothelin-1 - genetics | Endothelin-1 - metabolism | Ear - abnormalities | Humans | Molecular Sequence Data | Genotype | Male | Genes, Recessive | Ear Diseases - diagnosis | Phenotype | Sequence Alignment | Genes, Dominant | DNA Mutational Analysis | Pedigree | Female | Mutation | Amino Acid Substitution | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Research | Phospholipases | Health aspects | Enzymes | Deformation | Peptides | Binding sites | Index Medicus | Report
Journal Article