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Clinical cancer research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
Life Sciences & Biomedicine | Oncology | Science & Technology | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
MLL2 | KMT2D | KDM6C | Kabuki syndrome | UTY | KDM6A | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Hematologic Diseases - pathology | Genetic Predisposition to Disease | Face - abnormalities | Face - pathology | Humans | Male | DNA-Binding Proteins - genetics | Noonan Syndrome - genetics | Histone Demethylases - genetics | Sequence Analysis, DNA | Vestibular Diseases - pathology | Genes, X-Linked | Hematologic Diseases - genetics | Female | Mutation | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Maternal Inheritance | Genotype & phenotype | Genetic disorders | Index Medicus | Life Sciences
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 173 - 180
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | NIH 3T3 Cells | ras Proteins - genetics | Humans | Transcriptional Activation | Embryo, Nonmammalian - metabolism | Child, Preschool | ras Proteins - metabolism | Infant | Male | ets-Domain Protein Elk-1 - genetics | Mutation, Missense | RNA, Messenger - metabolism | Zebrafish - embryology | Incidence | MAP Kinase Signaling System | Noonan Syndrome - pathology | Muscle Spindles - pathology | ets-Domain Protein Elk-1 - metabolism | Germ-Line Mutation | Female | Cardiomyopathy, Hypertrophic - genetics | Embryo, Nonmammalian - pathology | RNA, Messenger - genetics | Mutation Rate | Noonan Syndrome - genetics | Animals | Noonan Syndrome - metabolism | Zebrafish - metabolism | Mice | Noonan Syndrome - epidemiology | Genetic Carrier Screening | Cardiomyopathy, Hypertrophic - pathology | Gene mutations | Noonan syndrome | Physiological aspects | Genetic aspects | Research | Guanosine triphosphatase | Health aspects | Zebrafish | Mutation | Kinases | Embryos | Genes | Cells | Index Medicus | Report
Journal Article
Journal of medical genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - pathology | Face - abnormalities | Humans | Child, Preschool | Infant | Male | Mutation, Missense | Skin Abnormalities - diagnosis | Intellectual Disability - genetics | MAP Kinase Kinase 1 - genetics | Noonan Syndrome - pathology | Heart Defects, Congenital - genetics | MAP Kinase Signaling System - genetics | DNA Mutational Analysis | Female | Skin Abnormalities - pathology | Child | MAP Kinase Kinase 2 - genetics | Abnormalities, Multiple - genetics | Noonan Syndrome - diagnosis | Diagnosis, Differential | Heart Defects, Congenital - pathology | Genotype | Signal Transduction - genetics | Noonan Syndrome - genetics | Syndrome | Phenotype | Proto-Oncogene Proteins B-raf - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Heart Defects, Congenital - diagnosis | Skin Abnormalities - genetics | Genes, ras | Cohort Studies | Gene mutations | Analysis | Child development deviations | Research | Developmental disabilities | Index Medicus | CFC syndrome | Noonan syndrome | Costello syndrome | KRAS | BRAF | MEK1 | MEK2 | Original | HRAS
Journal Article
Human genetics, ISSN 0340-6717, 2/2016, Volume 135, Issue 2, pp. 209 - 222
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - metabolism | ras Proteins - genetics | Exons | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Gene Expression Regulation | SOS1 Protein - metabolism | Child, Preschool | Genetic Association Studies - methods | ras Proteins - metabolism | Infant | Male | Noonan Syndrome - genetics | Chylothorax - genetics | Pleural Effusion - genetics | Heart Defects, Congenital - genetics | Hydrops Fetalis - genetics | Nuchal Translucency Measurement | SOS1 Protein - genetics | Female | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Infant, Newborn | Proto-Oncogene Proteins p21(ras) - metabolism | Genetic research | Genetic aspects | Congenital heart disease | Genetic disorders | Analysis | Noonan syndrome | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 250 - 257
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Proto-Oncogene Proteins c-cbl - genetics | Humans | Mutant Proteins - genetics | Molecular Sequence Data | Male | Germ-Line Mutation - genetics | Noonan Syndrome - genetics | Phenotype | DNA Mutational Analysis | Base Sequence | Tumor Suppressor Proteins - genetics | Amino Acid Substitution - genetics | Female | Heterozygote | Tumor suppressor genes | Research | Gene mutations | Gene expression | Analysis | Noonan syndrome | Genotype & phenotype | Genetics | Genetic disorders | Mutation | Genes | Tumors | Index Medicus | Report
Journal Article
Current opinion in genetics & development, ISSN 0959-437X, 2009, Volume 19, Issue 3, pp. 230 - 236
Medical Education | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | ras Proteins - genetics | Humans | Noonan Syndrome - physiopathology | SOS1 Protein - metabolism | ras Proteins - metabolism | Signal Transduction - genetics | Noonan Syndrome - genetics | Syndrome | Noonan Syndrome - pathology | Animals | Models, Biological | SOS1 Protein - genetics | Germ-Line Mutation | Mitogen-Activated Protein Kinases - genetics | Signal Transduction - physiology | Mitogen-Activated Protein Kinases - metabolism | Gene mutations | Mitogens | Protein kinases | Index Medicus | MAP2K2 (MEK2) | Ras | capillary malformation-arteriovenous malformation syndrome | CRAF | NRAS | SPRED1 | gingival fibromatosis 1 syndrome | neurofibromin | cardio-facio-cutaneous syndrome | Noonan syndrome | HRAS | neurofibromatosis 1 | signal transduction pathway | MAP2K1 (MEK1) | BRAF | PTPN11 | MAPK | Legius syndrome | RASA1 | Costello syndrome | KRAS | autoimmune lymphoproliferative disorder | RAF1 | SOS1 | LEOPARD syndrome
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2013, Volume 381, Issue 9863, pp. 333 - 342