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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
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 7, p. 927, doi. 10.1007/s00431-013-1964-0
- By:
- 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
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
- By:
- Publication type:
- Article
Genomic imbalances in craniofacial microsomia.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 970, doi. 10.1002/ajmg.c.31857
- By:
- Publication type:
- Article
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.
- Published in:
- Public Health Genomics, 2016, v. 19, n. 5, p. 290, doi. 10.1159/000448912
- By:
- Publication type:
- Article
A new case of osteogenesis imperfecta type VIII and retinal detachment.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 238, doi. 10.1002/ajmg.a.61934
- By:
- Publication type:
- Article
Genetic causes of intellectual disability in a birth cohort: A population-based study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1204, doi. 10.1002/ajmg.a.37011
- By:
- Publication type:
- Article
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 9, p. 1578, doi. 10.1177/10556656231174435
- By:
- Publication type:
- Article
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
- Published in:
- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 4, p. 411, doi. 10.1597/13-233
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- Publication type:
- Article
Searching for Genes for Cleft Lip and/or Palate Based on Breakpoint Analysis of a Balanced Translocation t(9;17)(q32;q12).
- Published in:
- Cleft Palate Craniofacial Journal, 2009, v. 46, n. 5, p. 532, doi. 10.1597/08-047.1
- By:
- 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
- By:
- Publication type:
- Article
Echocardiographic study in children with osteogenesis imperfecta.
- Published in:
- Cardiology in the Young, 2020, v. 30, n. 10, p. 1490, doi. 10.1017/S1047951120002474
- By:
- 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
<italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 1, p. 72, doi. 10.1002/bdr2.1123
- 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
PP142 Time-Driven Activity-Based Costing (TDABC) Of Brazilian Public Healthcare System (SUS): Preliminary Results For Osteogenesis Imperfecta (OI).
- Published in:
- 2022
- By:
- Publication type:
- Abstract
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
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
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
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
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
- By:
- 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
Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.
- Published in:
- Jornal de Pediatria, 2024, v. 100, n. 6, p. 604, doi. 10.1016/j.jped.2024.07.002
- By:
- 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
Identification of genomic imbalances in oral clefts.
- Published in:
- Jornal de Pediatria, 2021, v. 97, n. 3, p. 321, doi. 10.1016/j.jped.2020.06.005
- By:
- 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
Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta.
- Published in:
- Annals of Nutrition & Metabolism, 2018, v. 72, n. 1, p. 21, doi. 10.1159/000481918
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- Publication type:
- Article
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
- Published in:
- Annals of Human Genetics, 2016, v. 80, n. 6, p. 327, doi. 10.1111/ahg.12177
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- Publication type:
- Article
IMAGING FINDINGS IN OSTEOGENESIS IMPERFECTA.
- Published in:
- Clinical & Biomedical Research, 2017, v. 37, n. 3, p. 266, doi. 10.4322/2357-9730.73847
- By:
- 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
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
Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta.
- Published in:
- Health & Quality of Life Outcomes, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12955-015-0226-4
- 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
Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 6, p. e64, doi. 10.1371/journal.pgen.0010064
- By:
- Publication type:
- 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
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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0177503
- By:
- Publication type:
- Article