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Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 143 - 147
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 7, pp. 902 - 906
Journal Article
Acta dermato-venereologica, ISSN 0001-5555, 08/2018, Volume 98, Issue 8, pp. 809 - 810
Journal Article
Journal of Perinatology, ISSN 0743-8346, 05/2018, Volume 38, Issue 5, pp. 468 - 473
Objective: To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA). Methods: Data from... 
DIAGNOSIS | 10P15.3 | VARIANTS | RIGHT SUBCLAVIAN ARTERY | ANOMALIES | MICRODELETION SYNDROME | PEDIATRICS | DEVELOPMENTAL DELAY | KARYOTYPE | ASSOCIATION | DELETION | OBSTETRICS & GYNECOLOGY | Usage | DNA microarrays | Prenatal diagnosis | Analysis | Abnormalities | Research | Aorta, Thoracic | Literature reviews | Down's syndrome | Aortic arch | Fetuses | Data processing | Risk | Aorta | Ultrasound
Journal Article
Journal Article
Journal Article
International Journal of Rheumatic Diseases, ISSN 1756-1841, 03/2018, Volume 21, Issue 3, pp. 755 - 760
AimsTo determine if familial Mediterranean fever (FMF) genetic testing should be advised in children with initial presentation of monoarthritis and to identify... 
mutation | familial Mediterranean fever | arthritis | autosomal recessive | FMF MUTATIONS | DISEASE | CLINICAL PROFILE | SPECTRUM | RHEUMATOLOGY | ASSOCIATION | CHILDREN | MANIFESTATIONS | Medical research | Analysis | Medicine, Experimental | Arthritis | Genetic aspects | Familial Mediterranean fever | Diagnosis | Genetic screening | Pyrin protein | Statistical analysis | Pain | Population studies | Children | Mutation | Fever | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2015, Volume 167, Issue 3, pp. 607 - 611
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2012, Volume 49, Issue 7, pp. 462 - 472
BackgroundMembers of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs,... 
CYTOKINESIS | PROTEIN SPARTIN | ZEBRAFISH | GENE | ESCRT-I | MEMBRANE | GENETICS & HEREDITY | TRAFFICKING | PARAPLEGIA | ATLASTIN |