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Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2017, Volume 53, Issue 6, pp. 585 - 591
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 03/2014, Volume 164, Issue 3, pp. 553 - 559.e2
Journal Article
International Journal of Rheumatic Diseases, ISSN 1756-1841, 08/2019, Volume 22, Issue 8, pp. 1466 - 1473
Aim To study the clinical presentations of Behçet's disease in patients visiting a tertiary hospital in south‐western Saudi Arabia. Patients and methods... 
Behçet's disease | immunosuppressive drugs | rheumatology department | arthritis | corticosteroids | Behcet's syndrome | Corticoids | Neurological complications | Ulcers | Arthralgia | Medical records | Arthritis | Skin | Erythema | Patients | Thrombosis | Immunosuppressive agents
Journal Article
Vaccine, ISSN 0264-410X, 2015, Volume 33, Issue 22, pp. 2562 - 2569
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2016, Volume 58, Issue 12, pp. 1317 - 1322
Journal Article
Pediatric Neurology, ISSN 0887-8994, 01/2018, Volume 78, pp. 35 - 40
Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular detection of specific mutations is required... 
leukodystrophy | calcification | TREX-1 | Aicardi-Goutières syndrome | TREX1 | DISORDERS | PROGRESSIVE FAMILIAL ENCEPHALOPATHY | SAMHD1 | CLINICAL NEUROLOGY | IFIH1 | INTERFERON-ALPHA | METABOLISM | Aicardi-Goutieres syndrome | DISEASE | PEDIATRICS | INFECTION | MUTATIONS | Ribonucleases - genetics | Seizures - genetics | Humans | Atrophy - pathology | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | Epilepsy - physiopathology | Autoimmune Diseases of the Nervous System - pathology | Epilepsy - etiology | Libya | Saudi Arabia | Autoimmune Diseases of the Nervous System - physiopathology | Seizures - physiopathology | Seizures - pathology | Qatar | Autoimmune Diseases of the Nervous System - genetics | Nervous System Malformations - physiopathology | Epilepsy - genetics | Female | Nervous System Malformations - genetics | Child | Neurodevelopmental Disorders - etiology | Nervous System Malformations - pathology | Neurodevelopmental Disorders - physiopathology | United Arab Emirates | Muscle Spasticity - pathology | Autoimmune Diseases of the Nervous System - complications | White Matter - pathology | Muscle Spasticity - etiology | Nervous System Malformations - complications | Seizures - etiology | Consanguinity | Muscle Spasticity - physiopathology | Epilepsy - pathology | Muscle Spasticity - genetics | Medicine, Experimental | Medical research | Nervous system diseases | Arab countries | Index Medicus
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2016, Volume 58, Issue 12, pp. 1317 - 1322
Inherited aberrancies in intracellular vesicular transport are associated with a variety of neurological and non-neurological diseases. RUSC2 is a gene found... 
VESICULAR TRANSPORT | DISORDERS | PEDIATRICS | PROTEINS | CLINICAL NEUROLOGY | GENES | Microcephaly - genetics | Muscle Hypotonia - genetics | Humans | Male | Intellectual Disability - genetics | Carrier Proteins - genetics | Pedigree | Agenesis of Corpus Callosum - genetics | Adolescent | Epilepsy - genetics | Female | Mutation | Child
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 3, pp. 186 - 194
Journal Article