Found: 6
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Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation.
- Published in:
- Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18769811
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- Publication type:
- Article
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1109, doi. 10.1002/ajmg.a.38118
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- Publication type:
- Article
Healthcare burden of rare diseases in Hong Kong - adopting ORPHAcodes in ICD-10 based healthcare administrative datasets.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014–2018.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 7, p. 2305, doi. 10.1111/ene.14852
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- Publication type:
- Article
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder--implications of a copy number variation involving DPP10.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0136-x
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- Publication type:
- Article