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Clinical Genetics, ISSN 0009-9163, 03/2016, Volume 89, Issue 3, pp. 275 - 284
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 426 - 430
Journal Article
Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Developmental Psychology, ISSN 0012-1649, 04/2017, Volume 53, Issue 4, pp. 611 - 628
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2006, Volume 43, Issue 5, pp. 385 - 393
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite... 
TRANSLOCASE | COCHAPERONE | MCJ GENE | GENETICS & HEREDITY | MENTAL DEFICIENCY | 3-METHYLGLUTACONIC ACIDURIA | OVARIAN-CANCER | TIM23 | DYSTONIA | IDENTIFICATION | PROTEIN IMPORT MOTOR | Genetic Testing | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Mitochondrial Proteins - genetics | Mitochondrial Membrane Transport Proteins | Membrane Transport Proteins - genetics | Mitochondrial Proteins - metabolism | Adult | Cardiomyopathy, Dilated - diagnosis | Female | Membrane Transport Proteins - metabolism | Ataxia - genetics | Child | Abnormalities, Multiple - genetics | Microsatellite Repeats | Cardiomyopathy, Dilated - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Canada - ethnology | Chromosome Mapping | Ataxia - diagnosis | Syndrome | Membrane Transport Proteins - chemistry | Sequence Alignment | Pedigree | Abnormalities, Multiple - diagnosis | Adolescent | Mitochondrial Proteins - chemistry | Consanguinity | Genome, Human | Causes of | Ataxia | Genetic aspects | Research | Gene mutations | Cardiomyopathy, Dilated | Haplotypes | Medical research | Yeast | Cardiomyopathy | Intellectual disabilities | Genes | Genomes | Data bases | Defects | Proteins | Hospitals | Rodents | Phenols | Population | Mutation | Genetic testing | Deoxyribonucleic acid--DNA | 3‐methylglutaconic aciduria | Original | mitochondrial protein import | dilated cardiomyopathy
Journal Article
Journal Article
Developmental Psychobiology, ISSN 0012-1630, 07/2016, Volume 58, Issue 5, pp. 578 - 599
ABSTRACT Background: This study tested the hypothesis that maternal physiological and psychological variables during pregnancy discriminate between... 
salivary cortisol | stress reactivity | fetal programming | respiratory sinus arrhythmia | psychological distress | salivary α‐amylase | Salivary α-amylase | Psychological distress | Respiratory sinus arrhythmia | Salivary cortisol | Fetal programming | Stress reactivity | EMOTION DYSREGULATION | salivary alpha-amylase | DEVELOPMENTAL BIOLOGY | KINDERGARTEN-CHILDREN | POSTNATAL DEPRESSION SCALE | PSYCHOLOGY | INDIVIDUAL-DIFFERENCES | HEART-RATE-VARIABILITY | GLUCOCORTICOID EXPOSURE | UNDER-THE-CURVE | AUTONOMIC NERVOUS-SYSTEM | Humans | Respiratory Sinus Arrhythmia - physiology | Hydrocortisone - metabolism | Infant | Infant Behavior - classification | Pregnancy - psychology | Stress, Psychological - psychology | Pregnancy - metabolism | Stress, Psychological - metabolism | Adult | Female | Pregnancy Complications - metabolism | Hypothalamo-Hypophyseal System - physiology | Pituitary-Adrenal System - physiology | Pregnancy - physiology | Infant Behavior - physiology | Pituitary-Adrenal System - metabolism | Affect - physiology | Autonomic Nervous System - physiology | alpha-Amylases - metabolism | Pregnancy Complications - physiopathology | Hypothalamo-Hypophyseal System - metabolism | Pregnancy Complications - psychology | Biomarkers | Infant Behavior - psychology | Longitudinal Studies | Stress, Psychological - physiopathology | Amylases | Corticosteroids | Child development | Stress (Psychology) | Pregnant women | Analysis
Journal Article
Journal Article
Chronic Diseases and Injuries in Canada, ISSN 0228-8699, 2012, Volume 32, Issue 2, pp. 90 - 100
  Introduction: Early identification of autism spectrum disorders (ASD) is important, since earlier exposure to behavioural intervention programs may result in... 
Canada | Asperger syndrome | Autistic disorder | Surveillance | Pervasive child developmental disorder | Age at diagnosis | Autism spectrum disorder | Autism | Regions | Regression analysis | Medical diagnosis | Age
Journal Article