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American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 05/2019, Volume 28, Issue 10, pp. 1671 - 1681
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | GATA3 Transcription Factor - genetics | Limb Deformities, Congenital - genetics | Kidney - pathology | Humans | Urogenital System - physiopathology | Foot Deformities, Congenital - genetics | Limb Deformities, Congenital - physiopathology | Urogenital System - growth & development | Foot Deformities, Congenital - physiopathology | Mullerian Ducts - physiopathology | Urogenital Abnormalities - physiopathology | Abnormalities, Multiple - genetics | Ureter - physiopathology | Ureter - abnormalities | Abnormalities, Multiple - physiopathology | Homeodomain Proteins - genetics | Animals | Hand Deformities, Congenital - genetics | Kidney - abnormalities | Hand Deformities, Congenital - physiopathology | Mice | Mutation | Extremities - growth & development | Extremities - physiopathology | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | Index Medicus | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
Journal Article
Neonatal network, ISSN 0730-0832, 03/2019, Volume 38, Issue 2, pp. 98 - 106
Pediatrics and Neonatal | Critical Care, Acute Care, and Emergency | Nursing | Advanced Practice | Women's Health, Obstetrics, and Midwifery | Anal atresia | Limb malformations | Vertebral malformations | Esophageal atresia | Situs inversus | Renal malformations | Cardiac defects | Congenital malformations | Tracheoesophageal fistula | Aftercare - methods | Physical Examination - methods | Humans | Vestibulocochlear Nerve Diseases - congenital | Limb Deformities, Congenital - therapy | Limb Deformities, Congenital - physiopathology | Patient Care Management - methods | Spine - abnormalities | Esophagus - physiopathology | Radiography, Abdominal - methods | Situs Inversus - diagnosis | Anal Canal - physiopathology | Female | Situs Inversus - therapy | Vestibulocochlear Nerve Diseases - diagnosis | Trachea - physiopathology | Infant, Newborn | Kidney - physiopathology | Trachea - abnormalities | Diagnosis, Differential | Respiratory Distress Syndrome, Newborn - diagnosis | Situs Inversus - complications | Spine - physiopathology | Neonatal Screening - methods | Esophagus - abnormalities | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Situs Inversus - physiopathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Radiography, Thoracic - methods | Heart Defects, Congenital - physiopathology | Heart Defects, Congenital - therapy
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 123 - 129
smooth muscle hamartoma | TODPD | hypopigmented patch | filamin A | digital fibroma | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Fingers - physiopathology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - physiopathology | Toes - diagnostic imaging | Osteochondrodysplasias - genetics | Female | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Osteochondrodysplasias - diagnostic imaging | Filamins - genetics | Fingers - abnormalities | Bone Diseases, Developmental - diagnosis | Toes - physiopathology | Genetic Diseases, X-Linked - physiopathology | Pigmentation Disorders - physiopathology | Hypopigmentation - genetics | Pigmentation Disorders - diagnosis | Osteochondrodysplasias - diagnosis | Genetic Diseases, X-Linked - diagnosis | Pigmentation Disorders - genetics | Hand - physiopathology | Limb Deformities, Congenital - diagnosis | Hypopigmentation - physiopathology | Osteochondrodysplasias - physiopathology | Phenotype | Turkey - epidemiology | Bone Diseases, Developmental - diagnostic imaging | Limb Deformities, Congenital - diagnostic imaging | Hypopigmentation - diagnostic imaging | Pigmentation Disorders - diagnostic imaging | Mutation | Skin - physiopathology | Toes - abnormalities | Phenotypes | Splicing | Scalp | Bone dysplasia | Smooth muscle | Skeleton | Skin | Children | Neoplasia | Defects | Ossification | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1369 - 1373
exome sequencing | DDX3X | intellectual disability | Toriello–Carey syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Agenesis of Corpus Callosum - diagnosis | Limb Deformities, Congenital - genetics | Pierre Robin Syndrome - physiopathology | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Genes, X-Linked | Agenesis of Corpus Callosum - genetics | Female | Urogenital Abnormalities - physiopathology | Child | Craniofacial Abnormalities - genetics | Urogenital Abnormalities - diagnosis | Agenesis of Corpus Callosum - physiopathology | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | DEAD-box RNA Helicases - genetics | Limb Deformities, Congenital - diagnosis | Exome - genetics | Phenotype | Pierre Robin Syndrome - genetics | Craniofacial Abnormalities - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Urogenital Abnormalities - genetics | Genotype & phenotype | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3083 - 3089
terminal transverse limb defects | thrombophilia | factor V Leiden | limb deformities | limb deficiency defect | hematologic | pregnancy complications | congenital | prenatal diagnosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombophilia - physiopathology | Humans | Limb Deformities, Congenital - physiopathology | Male | Blood Vessels - diagnostic imaging | Chorionic Villi Sampling - methods | Thrombophilia - epidemiology | Gestational Age | Thrombophilia - etiology | Blood Vessels - physiopathology | Pregnancy | Canada | Thrombophilia - diagnostic imaging | Extremities - blood supply | Mass Screening | Amniotic Band Syndrome - physiopathology | Limb Deformities, Congenital - etiology | Limb Deformities, Congenital - diagnostic imaging | Adult | Female | Extremities - physiopathology | Development and progression | Genetic disorders | Causes and theories of causation | Diseases | Defects | Index Medicus
Journal Article
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 04/2012, Volume 83, Issue 4, pp. 399 - 403
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Neurology | Biological and medical sciences | Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis | Medical sciences | Genetic Diseases, X-Linked - epidemiology | Anterior Horn Cells - metabolism | Amyotrophic Lateral Sclerosis - physiopathology | Comorbidity | Humans | Anterior Horn Cells - pathology | Amyotrophic Lateral Sclerosis - diagnosis | Axons - metabolism | Limb Deformities, Congenital - physiopathology | Ulnar Nerve - physiopathology | Genetic Diseases, X-Linked - diagnosis | Evoked Potentials, Motor | Limb Deformities, Congenital - diagnosis | Limb Deformities, Congenital - epidemiology | Sensitivity and Specificity | Genetic Diseases, X-Linked - physiopathology | Amyotrophic Lateral Sclerosis - epidemiology | Causes of | Muscle tone | Amyotrophic lateral sclerosis | Diagnosis | Risk factors | Index Medicus
Journal Article
Cell (Cambridge), ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics | Index Medicus
Journal Article
BMC medical genetics, ISSN 1471-2350, 06/2019, Volume 20, Issue 1, pp. 108 - 108
BHLHA9 | Ectrodactyly | Split hand/foot malformation with long bone deficiency | 17p13.3 duplication | Split hand/foot malformation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Limb Deformities, Congenital - genetics | Genetic Predisposition to Disease | Basic Helix-Loop-Helix Transcription Factors - genetics | Genetic Association Studies | Chromosome Duplication | Humans | Tibia - diagnostic imaging | Foot Deformities, Congenital - genetics | Limb Deformities, Congenital - physiopathology | Gene Dosage | Genetic Loci | Chromosomes, Human, Pair 17 - genetics | Tibia - abnormalities | Ectromelia | Comparative Genomic Hybridization | Hand Deformities, Congenital - genetics | Limb Deformities, Congenital - diagnostic imaging | Female | Gene Rearrangement - genetics | Infant, Newborn | Tibia - physiopathology | Musculoskeletal diseases | Case studies | Molecular genetics | Genetic aspects | Diagnosis | Research | Risk factors | Hands | Limbs | Pediatrics | Gene dosage | Congenital diseases | Congenital defects | Genes | Neurodevelopmental disorders | Genetic screening | Feet | Abdomen | Clubfoot | Polymerase chain reaction | Ultrasonic imaging | Genetic counseling | Gene rearrangement | Gene duplication | Photographs | Bone (long) | Mutation | Foot diseases | Index Medicus
Journal Article
Brain structure & function, ISSN 1863-2653, 1/2016, Volume 221, Issue 1, pp. 383 - 406
Neurology | Neurosciences | Somatotopy | Biomedicine | Plasticity | Reorganization | Macaque | Congenital limb deficiency | Cell Biology | Neurosciences & Neurology | Life Sciences & Biomedicine | Anatomy & Morphology | Science & Technology | Macaca radiata | Foot - innervation | Somatosensory Cortex - physiopathology | Electroencephalography - veterinary | Macaca fascicularis | Monkey Diseases - physiopathology | Action Potentials | Brain Mapping - veterinary | Animals | Thalamus - physiopathology | Neuronal Plasticity | Foot Deformities, Congenital - physiopathology | Neuroanatomical Tract-Tracing Techniques - veterinary | Foot Deformities, Congenital - veterinary | Brain Stem - physiopathology | Spinal Cord - physiopathology | Neural Pathways - physiopathology | Cerebrum - physiopathology | Primates | Birth defects | Genetic disorders | Analysis | Nervous system | Monkeys & apes | Deformities | Index Medicus
Journal Article