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Development (Cambridge), ISSN 0950-1991, 05/2017, Volume 144, Issue 10, pp. 1743 - 1763
Development | Genetics | CADASIL | Adams-Oliver syndrome | Alagille | Notch | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Limb Deformities, Congenital - genetics | Genetic Diseases, Inborn - embryology | Ectodermal Dysplasia - embryology | Humans | Genetic Diseases, Inborn - genetics | Hernia, Diaphragmatic - embryology | Hernia, Diaphragmatic - genetics | Receptors, Notch - genetics | Limb Deformities, Congenital - embryology | Hajdu-Cheney Syndrome - embryology | Meningocele - embryology | Scalp Dermatoses - embryology | Abnormalities, Multiple - embryology | Alagille Syndrome - embryology | Hajdu-Cheney Syndrome - genetics | Alagille Syndrome - genetics | Animals | Ectodermal Dysplasia - genetics | Scalp Dermatoses - genetics | Meningocele - genetics | Scalp Dermatoses - congenital | Abnormalities, Multiple - genetics | Fibula | Congenital diseases | Alagille syndrome | Polycystic kidney | Developmental biology | Ligands | Dysostosis | Meninges | Genomes | Notch protein | Mutation | Index Medicus | Medicin och hälsovetenskap
Journal Article
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
Seminars in cell & developmental biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein | Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 122 - 124
Melnick Needles syndrome | NOTCH2 | Hajdu-Cheney syndrome | serpentine fibula polycystic kidney syndrome | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Kidneys | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Malformations of the urinary system | Rare Diseases - genetics | Genetic Testing | Neck - diagnostic imaging | Exons | Humans | Receptor, Notch2 - genetics | Hand - diagnostic imaging | Radiography | Hajdu-Cheney Syndrome - genetics | Magnetic Resonance Imaging | Phenotype | Adolescent | Ultrasonography | Hajdu-Cheney Syndrome - diagnostic imaging | Head - diagnostic imaging | Female | Heterozygote | Mutation | Child | Fibula | Dysplasia | Polycystic kidney | Hearing impairment | Medicine | Genotype & phenotype | Osteoporosis | Classification | Bone dysplasia | Genetics | Evolution | Needles | Skeleton | Kidney diseases | Evolution & development | Age | Deoxyribonucleic acid--DNA | Siblings | Index Medicus | Short Report | Hajdu–Cheney syndrome
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 572 - 576
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Miscellaneous. Osteoarticular involvement in other diseases | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Osteolysis - genetics | Humans | Models, Molecular | Abnormalities, Multiple - diagnostic imaging | Arthritis - genetics | Contracture - genetics | Corneal Opacity - genetics | Corneal Opacity - diagnostic imaging | Radiography | Contracture - diagnostic imaging | Hajdu-Cheney Syndrome - genetics | Osteolysis - diagnostic imaging | Osteoporosis - diagnostic imaging | Growth Disorders - diagnostic imaging | Matrix Metalloproteinase 14 - genetics | Female | Osteoporosis - genetics | Mutation | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Gene mutations | Genetic susceptibility | Growth | Causes of | Bones | Arthritis | Genetic aspects | Research | Osteolysis | Musculoskeletal diseases | Proteins | Signal transduction | Membranes | Peptides | Index Medicus | Report
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 200 - 200
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hajdu-Cheney Syndrome - genetics | Diagnosis, Differential | Osteoporosis - therapy | Humans | Osteoporosis - diagnosis | Bone Density Conservation Agents - therapeutic use | Osteoporosis - genetics | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - diagnosis | Mutation - genetics | Hajdu-Cheney Syndrome - therapy | Proteins | Kidney diseases | Diagnosis | Health aspects | Analysis | Epidermal growth factor | Fractures | Kidneys | Disease | Homeostasis | Mutation | Lymphoma | Defects | Index Medicus
Journal Article
Osteoporosis international, ISSN 0937-941X, 8/2013, Volume 24, Issue 8, pp. 2275 - 2281
NOTCH2 | Osteoporosis | Medicine & Public Health | Orthopedics | Rheumatology | Exome sequencing | Acroosteolysis | Hajdu–Cheney syndrome | Endocrinology | Hajdu-Cheney syndrome | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Humans | Middle Aged | Finger Phalanges - diagnostic imaging | Male | Receptor, Notch2 - genetics | Radiography | Young Adult | Finger Phalanges - pathology | Hajdu-Cheney Syndrome - genetics | Exome - genetics | Hajdu-Cheney Syndrome - pathology | Pedigree | Adolescent | Hajdu-Cheney Syndrome - diagnostic imaging | Adult | Female | Heterozygote | Osteoporosis - genetics | Mutation | Sequence Analysis, DNA - methods | Finger Phalanges - abnormalities | Complications and side effects | Genetic disorders | Physiological aspects | Cellular signal transduction | Genetic aspects | Research | Risk factors | Patients | Index Medicus
Journal Article
Metabolism, clinical and experimental, ISSN 0026-0495, 03/2018, Volume 80, pp. 48 - 56
Hajdu Cheney Syndrome | Osteoporosis | Genetic disorders | Acroosteolysis | Notch | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Hajdu-Cheney Syndrome - genetics | Animals | Humans | Receptor, Notch2 - genetics | Receptors, Notch - genetics | Signal Transduction - genetics | Hajdu-Cheney Syndrome - physiopathology | Somatotropin | Medical research | Medicine, Experimental | Lymphomas | Mice | Genetic transcription | Index Medicus | osteoporosis | genetic disorders | acroosteolysis
Journal Article