Found: 22
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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.
- Published in:
- 2022
- By:
- Publication type:
- journal article
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 485, doi. 10.1159/000525020
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- Publication type:
- Article
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 219, doi. 10.1159/000515044
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- Publication type:
- Article
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
Novel and Recurrent Mutations in the <bold><italic>FGFR3 </italic></bold> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 92, doi. 10.1159/000486697
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- Publication type:
- Article
A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 86, doi. 10.1034/j.1399-0004.1999.560113.x
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- Publication type:
- Article
Atenção em genética médica no SUS: a experiência de um município de médio porte.
- Published in:
- Physis: Revista de Saúde Coletiva, 2013, v. 23, n. 1, p. 243, doi. 10.1590/S0103-73312013000100014
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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
Polymorphic Markers Suggest a Gene Flow of CFTR Gene from Sub-Saharan/Arabian and Mediterranean to Brazilian Population.
- Published in:
- Journal of Heredity, 2006, v. 97, n. 4, p. 313, doi. 10.1093/jhered/esl016
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- Publication type:
- 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
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 11, p. 1881, doi. 10.1007/s00415-009-5219-y
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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
Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5433, doi. 10.1007/s00415-024-12489-9
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- Publication type:
- Article
Haplotype Distribution of and Linkage Disequilibrium Between Four Polymorphic Markers Near the CFTR Locus in Brazilian Cystic Fibrosis Patients.
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- Human Biology, 2005, v. 77, n. 6, p. 853, doi. 10.1353/hub.2006.0011
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- Publication type:
- Article
Molecular Analysis of 23 Exons of the CFTR Gene in Brazilian Patients Leads to the Finding of Rare Cystic Fibrosis Mutations.
- Published in:
- Human Biology, 2005, v. 77, n. 1, p. 125, doi. 10.1353/hub.2005.0027
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- Publication type:
- Article
The 3120+1G-->A Splicing Mutation in CFTR Is Common in Brazilian Cystic Fibrosis Patients.
- Published in:
- Human Biology, 2001, v. 73, n. 3, p. 403, doi. 10.1353/hub.2001.0031
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- Publication type:
- Article
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
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- Application of Clinical Genetics, 2022, v. 15, p. 153, doi. 10.2147/TACG.S372761
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- Publication type:
- Article
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Physiotherapy and patients with osteogenesis imperfecta: an experience report.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 4, p. 164, doi. 10.1159/000439506
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- Publication type:
- Article