Found: 7
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Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 5, p. 255, doi. 10.1159/000501892
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- Publication type:
- Article
Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.
- Published in:
- 2009
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- Publication type:
- journal article
Clinical Characteristics of Alopecia Areata in Down Syndrome.
- Published in:
- Acta Dermatovenerologica Croatica, 2013, v. 21, n. 4, p. 253
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- Publication type:
- Article
A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4828, doi. 10.3390/jcm10214828
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- Publication type:
- Article
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64407-8
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- Publication type:
- Article
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
- Published in:
- 2017
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- Publication type:
- Case Study
Physiotherapy and patients with osteogenesis imperfecta: an experience report.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article