Found: 38
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Assessment of quality of life in children with epilepsy in Oman.
- Published in:
- Journal of Patient-Reported Outcomes, 2023, v. 7, n. 1, p. 1, doi. 10.1186/s41687-023-00555-1
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- Publication type:
- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
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- Publication type:
- Article
Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 520, doi. 10.1111/cge.13838
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- Publication type:
- Article
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 666, doi. 10.1111/cge.13678
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- Publication type:
- Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438
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- Publication type:
- Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02946-5
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- Publication type:
- Article
Stroke in sickle cell disease in association with bilateral absence of the internal carotid arteries. Case report.
- Published in:
- 2022
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- Publication type:
- journal article
Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1323176
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- Publication type:
- Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22036-z
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- Publication type:
- Article
Aetiology and Outcome of Childhood Convulsive Status Epilepticus: A tertiary care experience in Oman.
- Published in:
- Sultan Qaboos University Medical Journal, 2024, v. 24, n. 3, p. 367, doi. 10.18295/SQUMJ.6.2024.031
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- Publication type:
- Article
Response from the Authors.
- Published in:
- Sultan Qaboos University Medical Journal, 2023, v. 23, n. 4, p. 567
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- Publication type:
- Article
Absent Septum Pellucidum: Search for other anomalies.
- Published in:
- Sultan Qaboos University Medical Journal, 2023, v. 23, n. 3, p. 423, doi. 10.18295/squmj.5.2023.024
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- Publication type:
- Article
Guillain-Barré Syndrome Associated with SARS-CoV-2 in Two Pediatric Patients.
- Published in:
- Sultan Qaboos University Medical Journal, 2023, v. 23, n. 3, p. 400, doi. 10.18295/squmj.5.2022.040
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- Publication type:
- Article
Telemedicine in the Era of COVID-19 and Beyond: A new horizon.
- Published in:
- Sultan Qaboos University Medical Journal, 2020, v. 20, n. 4, p. e277, doi. 10.18295/squmj.2020.20.04.001
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- Publication type:
- Article
Inappropriate Laughter in a Patient with Hypothalamic Hamartoma.
- Published in:
- Sultan Qaboos University Medical Journal, 2020, v. 20, n. 2, p. 231, doi. 10.18295/squmj.2020.20.02.016
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- Publication type:
- Article
Rituximab Treatment in Myasthaenia Gravis: Report of two paediatric cases.
- Published in:
- 2018
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- Publication type:
- Case Study
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.
- Published in:
- Sultan Qaboos University Medical Journal, 2017, v. 17, n. 3, p. 355, doi. 10.18295/squmj.2017.17.03.018
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- Publication type:
- Article
Re: Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex.
- Published in:
- Sultan Qaboos University Medical Journal, 2016, v. 16, n. 4, p. 520, doi. 10.18295/squmj.2016.16.04.022
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- Publication type:
- Article
'Papaya Seed' Appearance of Subependymal Nodules on Magnetic Resonance Imaging in a Patient with Tuberous Sclerosis.
- Published in:
- 2016
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- Publication type:
- Case Study
Learning Disabilities.
- Published in:
- 2016
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- Publication type:
- Editorial
Comorbidity of Learning Disorders and Attention Deficit Hyperactivity Disorder in a Sample of Omani Schoolchildren.
- Published in:
- Sultan Qaboos University Medical Journal, 2015, v. 15, n. 4, p. 528, doi. 10.18295/squmj.2015.15.04.015
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- Publication type:
- Article
Rigid Spine Syndrome among Children in Oman.
- Published in:
- Sultan Qaboos University Medical Journal, 2015, v. 15, n. 3, p. e364, doi. 10.18295/SQUMJ.2015.15.03.010
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- Publication type:
- Article
Transient response to high‐dose niacin therapy in a patient with NAXE deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 4, p. 212, doi. 10.1002/jmd2.12425
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- Publication type:
- Article
Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children.
- Published in:
- Oman Journal of Ophthalmology, 2013, v. 6, n. 3, p. 193, doi. 10.4103/0974-620X.122277
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- Publication type:
- Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
- Published in:
- 2022
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- Publication type:
- journal article
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
- Published in:
- 2019
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- Publication type:
- journal article
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
- Published in:
- 2017
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- Publication type:
- journal article
N-Methyl-D-Aspartate Receptor Encephalitis, Post Herpes Encephalitis in Two Pediatric Cases.
- Published in:
- Oman Medical Journal, 2023, v. 38, n. 6, p. 22, doi. 10.5001/omj.2023.68
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- Publication type:
- Article
Evaluation of Children with Global Developmental Delay: A Prospective Study at Sultan Qaboos University Hospital, Oman.
- Published in:
- 2012
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- Publication type:
- Journal Article
Evaluation of Children with Global Developmental Delay: A Prospective Study at Sultan Qaboos University Hospital, Oman.
- Published in:
- Oman Medical Journal, 2012, v. 27, n. 4, p. 310, doi. 10.5001/omj.2012.76
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- Publication type:
- Article
Vehicular Entrapment and Heat Stroke in Three children: Is it a Form of Child Neglect?
- Published in:
- Oman Medical Journal, 2010, v. 25, n. 3, p. 222, doi. 10.5001/omj.2010.61
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- Publication type:
- Article
Case report: Cyclosporine A-induced extrapyramidal syndrome following hematopoietic stem cell transplantation.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1140732
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- Publication type:
- Article
Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 11, p. 1436, doi. 10.1177/0883073813479173
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- Publication type:
- Article
Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 11, p. 1467, doi. 10.1177/0883073812463610
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- Publication type:
- Article
Clinical and Genetic Study of Spinal Muscular Atrophies in Oman.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1227, doi. 10.1177/0883073807306268
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- Publication type:
- Article
Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2/Jansky- Bielschowsky Type) in Oman.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 5, p. 555, doi. 10.1177/0883073807302613
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- Publication type:
- Article
Comparative Audit of Clinical Research in Pediatric Neurology.
- Published in:
- Journal of Child Neurology, 2004, v. 19, n. 11, p. 882, doi. 10.1177/08830738040190110601
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- Publication type:
- Article