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Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.
- Published in:
- 2009
- By:
- Publication type:
- journal article
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
Silencing ScGUX2 reduces xylan glucuronidation and improves biomass saccharification in sugarcane.
- Published in:
- Plant Biotechnology Journal, 2024, v. 22, n. 3, p. 587, doi. 10.1111/pbi.14207
- By:
- Publication type:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
Presión positiva en vía aérea y cánula de alto flujo en el tratamiento de insuficiencia respiratoria por COVID-19, en unidades de cuidados respiratorios especiales, de dos hospitales de referencia en la República de Panamá.
- Published in:
- Revista Médica de Panamá, 2022, v. 42, n. 2, p. 7, doi. 10.37980/im.journal.rmdp.20221892
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- Publication type:
- Article
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1055, doi. 10.1002/ajmg.a.35271
- By:
- Publication type:
- 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
CARACTERÍSTICAS CLÍNICO-FUNCIONAIS DE INDIVÍDUOS COM OSTEOGÊNESE IMPERFEITA.
- Published in:
- Revista Movimenta, 2021, v. 14, n. 2, p. 254
- By:
- Publication type:
- Article
Clinical Characteristics of Alopecia Areata in Down Syndrome.
- Published in:
- Acta Dermatovenerologica Croatica, 2013, v. 21, n. 4, p. 253
- By:
- Publication type:
- Article
The sugarcane ShMYB78 transcription factor activates suberin biosynthesis in Nicotiana benthamiana.
- Published in:
- Plant Molecular Biology, 2020, v. 104, n. 4/5, p. 411, doi. 10.1007/s11103-020-01048-1
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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
- By:
- Publication type:
- Article
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 1, doi. 10.1007/s004390100537
- By:
- 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
- By:
- Publication type:
- Article
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
- Published in:
- Cancers, 2022, v. 14, n. 15, p. 3807, doi. 10.3390/cancers14153807
- By:
- Publication type:
- Article
Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02981-2
- By:
- Publication type:
- Article
Strategic analysis of a medical genetics center at a national health research institute in Brazil: challenges for the country’s public health system.
- Published in:
- Revista Ciência & Saúde Coletiva, 2021, v. 26, p. 3481, doi. 10.1590/1413-81232021269.2.27272019
- By:
- Publication type:
- Article
A concepção de família e religiosidade presente nos discursos produzidos por profissionais médicos acerca de crianças com doenças genéticas.
- Published in:
- Revista Ciência & Saúde Coletiva, 2012, v. 17, n. 2, p. 545, doi. 10.1590/S1413-81232012000200027
- By:
- Publication type:
- Article
Experimental Setup for Irradiation of Cell Cultures at L2A2.
- Published in:
- Quantum Beam Science (QuBS), 2022, v. 6, n. 1, p. 10, doi. 10.3390/qubs6010010
- By:
- Publication type:
- Article
miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01144
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- Publication type:
- Article
Association of Turner's Syndrome and Hypopituitarism: A Patient Report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 6, p. 901
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- Publication type:
- Article
Error Reduction in Vision-Based Multirotor Landing System.
- Published in:
- Sensors (14248220), 2022, v. 22, n. 10, p. 3625, doi. 10.3390/s22103625
- By:
- Publication type:
- Article
Forecasting Nonlinear Systems with LSTM: Analysis and Comparison with EKF.
- Published in:
- Sensors (14248220), 2021, v. 21, n. 5, p. 1805, doi. 10.3390/s21051805
- By:
- 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
- By:
- Publication type:
- Article
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 10, p. 3038, doi. 10.1007/s00415-020-09936-8
- By:
- Publication type:
- Article
Fumaric aciduria: an overview and the first Brazilian case report.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 4, p. 411, doi. 10.1007/s10545-010-9134-2
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- Publication type:
- Article
A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.637
- By:
- Publication type:
- Article
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69750-0
- By:
- Publication type:
- Article
Biomass Accumulation and Cell Wall Structure of Rice Plants Overexpressing a Dirigent-Jacalin of Sugarcane (ShDJ) Under Varying Conditions of Water Availability.
- Published in:
- Frontiers in Plant Science, 2019, p. N.PAG, doi. 10.3389/fpls.2019.00065
- By:
- Publication type:
- Article
SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.
- Published in:
- Clinical & Biomedical Research, 2022, v. 42, n. 2, p. 66, doi. 10.22491/2357-9730.117215
- By:
- Publication type:
- Article
SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.
- Published in:
- Clinical & Biomedical Research, 2022, v. 42, n. 1, p. 66, doi. 10.22491/2357-9730.117215
- By:
- Publication type:
- Article
An uncommon t(9;11)(p24;q22) with monoallelic loss of <italic>ATM</italic> and <italic>KMT2A</italic> genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0389-x
- By:
- Publication type:
- Article
Haplotype Distribution of and Linkage Disequilibrium Between Four Polymorphic Markers Near the CFTR Locus in Brazilian Cystic Fibrosis Patients.
- Published in:
- Human Biology, 2005, v. 77, n. 6, p. 853, doi. 10.1353/hub.2006.0011
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Differential responses of three Urochloa species to low phosphorus availability.
- Published in:
- Annals of Applied Biology, 2021, v. 179, n. 2, p. 216, doi. 10.1111/aab.12694
- By:
- Publication type:
- Article
Suberin and hemicellulose in sugarcane cell wall architecture and crop digestibility: A biotechnological perspective.
- Published in:
- Food & Energy Security, 2019, v. 8, n. 3, p. N.PAG, doi. 10.1002/fes3.163
- By:
- Publication type:
- Article
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.
- Published in:
- Application of Clinical Genetics, 2022, v. 15, p. 153, doi. 10.2147/TACG.S372761
- By:
- Publication type:
- Article
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 50, doi. 10.1002/ajmg.a.33770
- By:
- 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
Diel oscillations in cell wall components and soluble sugars as a response to short-day in sugarcane (Saccharum sp.).
- Published in:
- BMC Plant Biology, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12870-019-1837-4
- By:
- Publication type:
- Article
Front Cover, Volume 40, Issue 11.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. i, doi. 10.1002/humu.23934
- By:
- Publication type:
- Article