Found: 30
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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63836
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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 a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1323, doi. 10.1002/ajmg.a.36930
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- Publication type:
- Article
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
- Published in:
- Chromosome Research, 2024, v. 32, n. 2, p. 1, doi. 10.1007/s10577-024-09750-2
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- Publication type:
- Article
New Findings in eNOS gene and Thalidomide Embryopathy Suggest pre-transcriptional effect variants as susceptibility factors.
- Published in:
- Scientific Reports, 2016, p. 23404, doi. 10.1038/srep23404
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- Publication type:
- Article
Impact on Pregnancies in South Brazil from the Influenza A (H1N1) Pandemic: Cohort Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088624
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- Publication type:
- Article
Epidemiological Surveillance of Birth Defects Compatible with Thalidomide Embryopathy in Brazil.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021735
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- Publication type:
- Article
Zika virus infection and congenital anomalies in the Americas: opportunities for regional action.
- Published in:
- Pan American Journal of Public Health, 2017, v. 41, p. 1, doi. 10.26633/rpsp.2017.174
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- Publication type:
- Article
Genetic susceptibility to thalidomide embryopathy in humans: Study of candidate development genes.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 5, p. 456, doi. 10.1002/bdr2.1163
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- Publication type:
- Article
Clinical and molecular genetic features of ARC syndrome.
- Published in:
- Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
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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
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 162, doi. 10.1002/jmd2.12270
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- Publication type:
- Article
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47739-8
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- Publication type:
- Article
Congenital anomalies in pregnancies with overt and pregestational type 2 diabetes: a gray portrayal from a cohort in Brazil.
- Published in:
- Diabetology & Metabolic Syndrome, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13098-024-01376-y
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- Publication type:
- Article
Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil.
- Published in:
- Jornal de Pediatria, 2019, v. 95, n. 5, p. 600, doi. 10.1016/j.jped.2018.05.013
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- Publication type:
- Article
The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.
- Published in:
- Jornal Brasileiro de Patologia e Medicina Laboratorial, 2020, v. 56, p. 1, doi. 10.5935/1676-2444.20200011
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- Publication type:
- Article
High-risk twin pregnancy: case report of an adolescent patient with cystic fibrosis and systemic lupus erythematosus.
- Published in:
- 2022
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- Publication type:
- journal article
Reproductive results associated with misoprostol and other substances utilized for interruption of pregnancy.
- Published in:
- 2005
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- Publication type:
- Letter
EPIDEMIOLOGICAL PROFILE OF 39 CASES OF MICROCEPHALY CAUSED BY CONGENITAL INFECTIONS DIAGNOSED IN THE STATE OF RIO GRANDE DO SUL BETWEEN 2015-2017.
- Published in:
- Clinical & Biomedical Research, 2019, v. 39, n. 3, p. 200, doi. 10.4322/2357-9730.91329
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- Publication type:
- Article
ENVIRONMENTAL RISK FACTORS ASSOCIATED WITH BILIARY ATRESIA IN RIO GRANDE DO SUL, BRAZIL.
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- Clinical & Biomedical Research, 2017, v. 37, n. 2, p. 87, doi. 10.4322/2357-9730.71572
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- Publication type:
- Article
FAST AND ROBUST PROTOCOL FOR PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS TYPE II.
- Published in:
- Clinical & Biomedical Research, 2014, v. 34, n. 4, p. 371, doi. 10.4322/2357-9730.49872
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- Publication type:
- Article
PLACENTAL MESENCHYMAL DYSPLASIA AND INTRAUTERINE FETAL GROWTH RESTRICTION WITH DOPPLER VELOCIMETRY ALTERATIONS: A CASE REPORT.
- Published in:
- 2014
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- Publication type:
- Case Study
The role of FAS, FAS-L, BAX, and BCL-2 gene polymorphisms in determining susceptibility to unexplained recurrent pregnancy loss.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 995, doi. 10.1007/s10815-019-01441-w
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- Publication type:
- Article
Editorial: Teratogenesis: Experimental Models, Mechanisms and Clinical Findings in Humans.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.901400
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- Publication type:
- Article
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 8, p. 653, doi. 10.1002/pd.967
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- Publication type:
- Article
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
- Published in:
- 2016
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- Publication type:
- journal article
Expression profiles of meiotic genes in male vs. female gonads and gametes: Insights into fertility issues.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1125097
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- Publication type:
- Article
Twin Peaks: A spatial and temporal study of twinning rates in Brazil.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0200885
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- Publication type:
- Article
A New Strategy for the Old Challenge of Thalidomide: Systems Biology Prioritization of Potential Immunomodulatory Drug (IMiD)-Targeted Transcription Factors.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11515, doi. 10.3390/ijms241411515
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- Publication type:
- Article
Zika virus infection and congenital anomalies in the Americas: opportunities for regional action.
- Published in:
- Pan American Journal of Public Health / Revista Panamericana de Salud Pública, 2017, v. 41, p. 1, doi. 10.26633/rpsp.2017.174
- By:
- Publication type:
- Article