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Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 60 - 64
Syndromic genetic conditions, in aggregate, affect 8% of the population(1). Many syndromes have recognizable facial features(2) that are highly informative to... 
MEDICINE, RESEARCH & EXPERIMENTAL | NOONAN SYNDROME | DYSMORPHOLOGY | RECOGNITION | GENOTYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATIONS | CELL BIOLOGY | Computer vision | Learning algorithms | Image analysis | Phenotypes | Face recognition | Image processing | Machine learning | Phenotyping | Disorders | Genetics | Disease control | Genetic screening | Index Medicus
Journal Article
American Journal of Psychiatry, ISSN 0002-953X, 11/2010, Volume 167, Issue 11, pp. 1357 - 1363
Objective:Autism spectrum disorders are considered to be among the most heritable mental disorders, a notion based on surprisingly sparse data from small... 
SWEDISH TWIN | ADHD | GENERAL-POPULATION | TICS | PSYCHIATRY | DEFICIT HYPERACTIVITY DISORDER | INFANTILE-AUTISM | SYMPTOMS | TRAITS | BEHAVIORS | ENVIRONMENTAL-INFLUENCES | Twins, Dizygotic - psychology | Diseases in Twins - genetics | Twins, Monozygotic - genetics | Humans | Male | Motor Skills Disorders - genetics | Neurocognitive Disorders - psychology | Social Environment | Motor Skills Disorders - psychology | Twins, Monozygotic - psychology | Tic Disorders - diagnosis | Neurocognitive Disorders - genetics | Child Development Disorders, Pervasive - diagnosis | Learning Disorders - psychology | Female | Attention Deficit Disorder with Hyperactivity - diagnosis | Diseases in Twins - psychology | Child | Genetic Predisposition to Disease - psychology | Genetic Predisposition to Disease - genetics | Diseases in Twins - diagnosis | Quantitative Trait, Heritable | Comorbidity | Learning Disorders - diagnosis | Neurocognitive Disorders - diagnosis | Genotype | Tic Disorders - genetics | Twins, Dizygotic - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Child Development Disorders, Pervasive - genetics | Sex Factors | Attention Deficit Disorder with Hyperactivity - psychology | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Genetic Variation - genetics | Models, Genetic | Motor Skills Disorders - diagnosis | Tic Disorders - psychology | Autism | Genetic aspects | Diagnosis | Research | Neuropsychiatry | Child psychopathology | Attention deficit disorder | Studies | Twins | Children & youth | Index Medicus | Abridged Index Medicus | Delirium | Pervasive | Learning Disorders | Psychology | Genetic | Child Development Disorders | Single Nucleotide | Amnestic | Genetic Variation | Cognitive Disorders | Psykiatri | Genetics | Dizygotic | Monozygotic | Diseases in Twins | Genetic Predisposition to Disease | Motor Skills Disorders | Heritable | Attention Deficit Disorder with Hyperactivity | Tic Disorders | Models | Psychiatry | Genetics Quantitative Trait | Dementia | Polymorphism
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 505, Issue 7483, pp. 361 - 366
Journal Article
Book
Molecular Psychiatry, ISSN 1359-4184, 09/2011, Volume 16, Issue 9, pp. 938 - 948
Journal Article
Journal Article
British Medical Journal, ISSN 0959-8146, 09/2012, Volume 345, Issue 7875, p. 13
  Some chromosomal deletions and duplications (copy number variants) cause clinical features that vary widely from child to child. One has been associated with... 
Genotype & phenotype | Genetic disorders | Learning disabilities | Chromosomes | Children & youth
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy | Index Medicus
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