Found: 25
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Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 973, doi. 10.3390/genes15080973
- By:
- Publication type:
- Article
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
- Published in:
- European Journal of Medical Research, 2016, v. 21, p. 1, doi. 10.1186/s40001-016-0228-7
- By:
- Publication type:
- Article
PD50 Value Of Healthcare Journey For Patients With Rare Diseases In The Brazilian Public Healthcare System: Methods And Preliminary Results.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.
- Published in:
- Journal of Medical Internet Research, 2021, v. 23, n. 1, p. N.PAG, doi. 10.2196/24826
- By:
- Publication type:
- Article
Audiometric findings in the correlation between the type of molecular defect found in patients followed up at a reference center for osteogenesis imperfecta.
- Published in:
- International Archives of Otorhinolaryngology, 2022, v. 26, p. 80
- By:
- Publication type:
- Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
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- Publication type:
- Article
Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201029
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- Publication type:
- Article
Implementing the Brazilian Database on Orofacial Clefts.
- Published in:
- Plastic Surgery International, 2013, p. 1, doi. 10.1155/2013/641570
- By:
- Publication type:
- Article
Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
- Published in:
- Plastic Surgery International, 2012, p. 1, doi. 10.1155/2012/247104
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- Publication type:
- Article
Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 3, p. 251, doi. 10.1111/cge.13798
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- Publication type:
- Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
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- Publication type:
- Article
CLINICAL FEATURES AND PATTERN OF FRACTURES AT THE TIME OF DIAGNOSIS OF OSTEOGENESIS IMPERFECTA IN CHILDREN.
- Published in:
- Revista Paulista de Pediatria, 2017, v. 35, n. 2, p. 171, doi. 10.1590/1984-0462/;2017;35;2;00001
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- Publication type:
- Article
TGFA / Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil.
- Published in:
- Brazilian Oral Research, 2012, v. 26, n. 5, p. 431, doi. 10.1590/S1806-83242012005000016
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- Publication type:
- Article
Does universal newborn hearing screening impact the timing of deafness treatment?
- Published in:
- Jornal de Pediatria, 2022, v. 98, n. 2, p. 147, doi. 10.1016/j.jped.2021.04.008
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- Publication type:
- Article
Genomic imbalances in syndromic congenital heart disease.
- Published in:
- Jornal de Pediatria, 2017, v. 93, n. 5, p. 497, doi. 10.1016/j.jped.2016.11.007
- By:
- Publication type:
- Article
High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth.
- Published in:
- International Journal of Environmental Research & Public Health, 2013, v. 10, n. 2, p. 590, doi. 10.3390/ijerph10020590
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- Publication type:
- Article
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
- Published in:
- International Journal for Equity in Health, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12939-022-01809-y
- By:
- Publication type:
- Article
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
IMAGING FINDINGS IN OSTEOGENESIS IMPERFECTA.
- Published in:
- Clinical & Biomedical Research, 2017, v. 37, n. 3, p. 266, doi. 10.4322/2357-9730.73847
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- Publication type:
- Article
ANÁLISE COMPARATIVA ENTRE AS METODOLOGIAS DE PCR METILAÇÃO-ESPECÍFICA (MSP), SOUTHERN BLOT (SB) E FISH UTILIZADAS NO DIAGNÓSTICO GENÉTICO MOLECULAR DE PACIENTES COM SUSPEITA CLÍNICA DAS SÍNDROMES DE PRADER-WILLI OU ANGELMAN.
- Published in:
- Clinical & Biomedical Research, 2016, v. 36, n. 2, p. 71, doi. 10.4322/2357-9730.64823
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- Publication type:
- Article
A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 3, p. 219, doi. 10.1111/j.1399-0004.1998.tb04288.x
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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
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
- Published in:
- 2022
- By:
- Publication type:
- journal article
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 5, p. 148, doi. 10.1111/cga.12422
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- Publication type:
- Article