Found: 11
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Enterovirus infections in Singaporean children: an assessment of neurological manifestations and clinical outcomes.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec.
- Published in:
- Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17737638
- By:
- Publication type:
- Article
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 230, doi. 10.1002/ajmg.c.31704
- By:
- Publication type:
- Article
A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113258
- By:
- Publication type:
- Article
A consensus survey of neurologists and clinical geneticists on spinal muscular atrophy treatment in Singapore.
- Published in:
- Annals of the Academy of Medicine, Singapore, 2024, v. 53, n. 6, p. 386, doi. 10.47102/annals-acadmedsg.202425
- By:
- Publication type:
- Article
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 91, doi. 10.3233/JND-221517
- By:
- Publication type:
- Article
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1131, doi. 10.1002/jimd.12238
- By:
- Publication type:
- Article
Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 2, p. 150, doi. 10.1177/08830738060210021101
- By:
- Publication type:
- Article
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
- Published in:
- Journal of Molecular Medicine, 2019, v. 97, n. 11, p. 1557, doi. 10.1007/s00109-019-01834-5
- By:
- Publication type:
- Article
Correlates of adaptive skills in children with autism spectrum disorder.
- Published in:
- Autism: The International Journal of Research & Practice, 2021, v. 25, n. 6, p. 1592, doi. 10.1177/1362361321997287
- By:
- Publication type:
- Article
First pediatric organ donation after circulatory determination of death in Singapore: Facing challenges in the absence of a local practice guideline.
- Published in:
- Pediatric Transplantation, 2020, v. 24, n. 6, p. 1, doi. 10.1111/petr.13740
- By:
- Publication type:
- Article