Found: 14
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Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
- Published in:
- Irish Journal of Medical Science, 2022, v. 191, n. 4, p. 1877, doi. 10.1007/s11845-021-02736-7
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- Publication type:
- Article
Sexual Dimorphism in Telomere Length in Childhood Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 5, p. 2050, doi. 10.1007/s10803-022-05486-2
- By:
- Publication type:
- Article
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01682-w
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- Publication type:
- Article
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01682-w
- By:
- Publication type:
- Article
A fulminant presentation of post‐COVID‐19 necrotizing pneumonia and ischemic stroke in an 8‐year‐old girl: A case report and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
The effect of Rosa canina L. and a polyherbal formulation syrup in patients with attention-deficit/hyperactivity disorder: a study protocol for a multicenter randomized controlled trial.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.
- Published in:
- Current Journal of Neurology, 2020, v. 19, n. 4, p. 200
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- Publication type:
- Article
Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.
- Published in:
- Iranian Journal of Allergy, Asthma & Immunology, 2021, v. 20, n. 2, p. 245
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- Publication type:
- Article
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01215-8
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- Publication type:
- Article
Intracranial angiomatoid fibrous histiocytoma: report of a rare case.
- Published in:
- Iranian Journal of Child Neurology, 2022, v. 16, n. 3, p. 205, doi. 10.22037/ijcn.v15i4.26805
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- Publication type:
- Article
The first febrile seizure; predisposing factors and recurrence rate.
- Published in:
- Iranian Journal of Child Neurology, 2021, v. 15, n. 2, p. 59, doi. 10.22037/ijcn.v15i1.15644
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- Publication type:
- Article
Cerebellar Infarction in a 9 Year Old Child Presenting with Fever and Ataxia: A Case Report.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 1, p. 107
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- Publication type:
- Article
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study