Found: 53
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Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1414, n. 1, p. 126, doi. 10.1111/nyas.13600
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- Publication type:
- Article
Improving maternal folate status to prevent infant neural tube defects: working group conclusions and a framework for action.
- Published in:
- Annals of the New York Academy of Sciences, 2018, v. 1414, n. 1, p. 5, doi. 10.1111/nyas.13593
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- Publication type:
- Article
Self-Reported Maternal Cigarette Smoke Exposure during the Periconceptional Period and the Risk for Omphalocoele.
- Published in:
- Paediatric & Perinatal Epidemiology, 2014, v. 28, n. 1, p. 67, doi. 10.1111/ppe.12093
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- Publication type:
- Article
Nutritional Factors and Hypospadias Risks.
- Published in:
- Paediatric & Perinatal Epidemiology, 2012, v. 26, n. 4, p. 353, doi. 10.1111/j.1365-3016.2012.01272.x
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- Publication type:
- Article
Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.568718
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- Publication type:
- Article
Exploring gene-gene interactions in the etiology of neural tube defects.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 6, p. 456, doi. 10.1111/j.1399-0004.1998.tb02594.x
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- Publication type:
- Article
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
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- Publication type:
- Article
Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 2, p. 199, doi. 10.1002/ajmg.c.31908
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- Publication type:
- Article
From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 23, doi. 10.1002/ajmg.c.31775
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- Publication type:
- Article
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63516
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- Publication type:
- Article
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
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- Publication type:
- Article
Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 792, doi. 10.1002/ajmg.a.61091
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- Publication type:
- Article
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2901, doi. 10.1002/ajmg.a.40664
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- Publication type:
- Article
Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 306, doi. 10.1002/ajmg.a.37437
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- Publication type:
- Article
Risk factors for Dandy-Walker malformation: A population-based assessment.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2009, doi. 10.1002/ajmg.a.37124
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- Publication type:
- Article
Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2581, doi. 10.1002/ajmg.a.36695
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- Publication type:
- Article
Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2447, doi. 10.1002/ajmg.a.35555
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- Publication type:
- Article
The importance of nomenclature for congenital cardiac disease: implications for research and evaluation.
- Published in:
- Cardiology in the Young, 2008, v. 18, n. S2, p. 92, doi. 10.1017/S1047951108002515
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- Publication type:
- Article
Cancer Risk in Children and Adolescents with Birth Defects: A Population-Based Cohort Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069077
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- Publication type:
- Article
Treatment of Hyperthyroidism in Pregnancy and Birth Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. E337, doi. 10.1210/jc.2010-0652
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- Publication type:
- Article
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 3, p. 1, doi. 10.1371/journal.pgen.1009413
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- Publication type:
- Article
Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 18, p. 1451, doi. 10.1002/bdr2.1106
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- Publication type:
- Article
Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 2, p. 794, doi. 10.1007/s10803-018-3738-z
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- Publication type:
- Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02966-1
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- Publication type:
- Article
Maternal Exposure to Nitrogen Dioxide, Intake of Methyl Nutrients, and Congenital Heart Defects in Offspring.
- Published in:
- American Journal of Epidemiology, 2017, v. 186, n. 6, p. 719, doi. 10.1093/aje/kwx139
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- Publication type:
- Article
Using a health observance event to raise awareness: An assessment of World Birth Defects Day.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 12, p. 1140, doi. 10.1002/bdr2.2210
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- Publication type:
- Article
Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 1, p. 43, doi. 10.1002/bdr2.2003
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- Publication type:
- Article
Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 15, p. 885, doi. 10.1002/bdr2.2068
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- Publication type:
- Article
Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997–2011.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 14, p. 1084, doi. 10.1002/bdr2.1900
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- Publication type:
- Article
Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 14, p. 1057, doi. 10.1002/bdr2.1898
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- Publication type:
- Article
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 12, p. 945, doi. 10.1002/bdr2.1891
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- Publication type:
- Article
Risk factors associated with the development of double‐inlet ventricle congenital heart disease.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 11, p. 640, doi. 10.1002/bdr2.1501
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- Publication type:
- Article
An evolutionary and developmental biology approach to gastroschisis.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 6, p. 294, doi. 10.1002/bdr2.1481
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- Publication type:
- Article
A proposal for the systematic assessment of data quality indicators in birth defects surveillance.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 6, p. 324, doi. 10.1002/bdr2.1474
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- Publication type:
- Article
Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 6, p. 333, doi. 10.1002/bdr2.1472
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- Publication type:
- Article
A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.
- Published in:
- 2023
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- Publication type:
- Case Study
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
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- Publication type:
- Article
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lip.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.79278
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- Publication type:
- Article
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.79278
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- Publication type:
- Article
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
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- Publication type:
- Article
Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Public Health Approach to Improve Outcomes for Congenital Heart Disease Across the Life Span.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Ambient Air Pollution and Cardiovascular Malformations in Atlanta, Georgia, 1986-2003.
- Published in:
- American Journal of Epidemiology, 2009, v. 169, n. 8, p. 1004
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- Publication type:
- Article
Occurrence of Congenital Heart Defects in Relation to Maternal Multivitamin Use.
- Published in:
- American Journal of Epidemiology, 2009, v. 151, n. 9, p. 878
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- Publication type:
- Article
5, 10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HuGE Review.
- Published in:
- American Journal of Epidemiology, 2009, v. 151, n. 9, p. 862
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- Publication type:
- Article
RE: “MATERIAL VITAMIN USE, GENETIC VARIATION OF INFANT METHYLENETETRAHYDROFOLATE REDUCTASE, AND RISK FOR SPINA BIFIDA”.
- Published in:
- American Journal of Epidemiology, 2009, v. 150, n. 3, p. 323
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- Publication type:
- Article
Commentary: Facing the Challenge of Gene-Environment Interaction: The Two-by-Four Table and Beyond.
- Published in:
- American Journal of Epidemiology, 2001, v. 153, n. 10, p. 1016, doi. 10.1093/aje/153.10.1016
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- Publication type:
- Article
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
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- Publication type:
- Article
Does Maternal Exposure to Secondhand Tobacco Smoke During Pregnancy Increase the Risk for Preterm or Small-for-Gestational Age Birth?
- Published in:
- Maternal & Child Health Journal, 2018, v. 22, n. 10, p. 1418, doi. 10.1007/s10995-018-2522-1
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- Publication type:
- Article
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00422-y
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- Publication type:
- Article