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Journal of the American College of Cardiology, ISSN 0735-1097, 11/2018, Volume 72, Issue 20, pp. 2485 - 2506
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm... 
arrhythmias | dystrophy | skeletal muscle | myopathy | cardiomyopathies | CARDIAC & CARDIOVASCULAR SYSTEMS | RESTRICTIVE CARDIOMYOPATHY | FRIEDREICHS-ATAXIA | CLINICAL SPECTRUM | BARTH-SYNDROME | LINKED DILATED CARDIOMYOPATHY | LIMB-GIRDLE | LEFT-VENTRICULAR NONCOMPACTION | DIAGNOSTIC WORK-UP | HYPERTROPHIC CARDIOMYOPATHY | DUCHENNE MUSCULAR-DYSTROPHY | Glycogen Storage Disease Type II - genetics | Muscular Diseases - epidemiology | Humans | Muscular Dystrophy, Duchenne - epidemiology | Glycogen Storage Disease Type II - diagnostic imaging | Muscular Dystrophies - genetics | Muscular Dystrophy, Duchenne - diagnostic imaging | Phenotype | Heart Diseases - epidemiology | Muscular Dystrophies - epidemiology | Pedigree | Review Literature as Topic | Glycogen Storage Disease Type II - epidemiology | Heart Diseases - diagnostic imaging | Muscular Diseases - genetics | Muscular Dystrophies - diagnostic imaging | Muscular Dystrophy, Duchenne - genetics | Heart Diseases - genetics | Muscular Diseases - diagnostic imaging | Heart | Arrhythmia | Creatine kinase | Glycogen | Muscles | Genetic aspects | Lactic acid | Cardiology | Creatine | Fatty acids | Genetic screening | Pediatrics | Conduction | Cardiac arrhythmia | Disease | Muscular diseases | Cardiomyopathy | Disorders | Kinases | Muscular dystrophy | Defects | Eutrophication | Genotype & phenotype | Mitochondria | Glycogenosis | Ataxia | Oxidation | Bioindicators | Heart diseases | Age | Heart failure | Phenotypes | Neuromuscular diseases | Genetic disorders | Patients | Coronary artery disease | Skeletal muscle | Diseases | Storage diseases | Friedreich's ataxia | Musculoskeletal system | Medical prognosis | Family studies | Biomarkers | Ventricle | Mutation
Journal Article
Neurology, ISSN 0028-3878, 11/2018, Volume 91, Issue 22, pp. e2078 - e2088
OBJECTIVETo characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. METHODSWe analyzed clinical,... 
STROKE | HANAC | PATTERN | ILAE COMMISSION | HEMORRHAGE | SMALL-VESSEL DISEASE | FAMILIES | EPILEPSY | EXPRESSION | CLINICAL NEUROLOGY | Genetic Association Studies | Humans | Child, Preschool | Male | Nervous System Diseases - genetics | Young Adult | Adolescent | Collagen Type IV - genetics | Adult | Epilepsy - genetics | Female | Mutation | Child | Nervous System Diseases - pathology
Journal Article
Current Opinion in Pulmonary Medicine, ISSN 1070-5287, 05/2019, Volume 25, Issue 3, pp. 281 - 288
Journal Article
2015, Advances in special education, ISBN 1784416584, Volume 29, xii, 129 pages
"This volume addresses the Broad Autism Phenotype (BAP). It provides readers with a current and comprehensive research literature about the BAP. The BAP is... 
Autism spectrum disorders | Autism | Phenotype | Autistic Disorder
Book
Lancet, The, ISSN 0140-6736, 2016, Volume 387, Issue 10014, pp. 156 - 167
Journal Article
Brain, ISSN 0006-8950, 04/2019, Volume 142, Issue 4, pp. 834 - 838
This scientific commentary refers to 'Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics', by Vandervore et... 
NEUROSCIENCES | CLINICAL NEUROLOGY | Carrier Proteins - genetics | Phenotype | Microcephaly | Humans | Cell Cycle Proteins
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2017, Volume 82, Issue 1, pp. 79 - 92
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 199 - 215
Journal Article