Found: 36
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Gene Environment Interactions in the Etiology of Neural Tube Defects.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.659612
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- Article
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1299, doi. 10.1007/s00439-020-02172-0
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- Article
Genetic imprint of the Mongol: signal from phylogeographic analysis of mitochondrial DNA.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 10, p. 905, doi. 10.1007/s10038-008-0325-8
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- Publication type:
- Article
Actuation enhances patterning in human neural tube organoids.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22952-0
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- Publication type:
- Article
Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1546, doi. 10.1002/ajmg.a.63185
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- Publication type:
- Article
Identification of Novel CELSR1 Mutations in Spina Bifida.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092207
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- Publication type:
- Article
Mutations in Planar Cell Polarity Gene <i>SCRIB</i> Are Associated with Spina Bifida.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069262
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- Publication type:
- Article
Gene variants in the folate pathway are associated with increased levels of folate receptor autoantibodies.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 12, p. 973, doi. 10.1002/bdr2.1334
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- Publication type:
- Article
Maternal Hypertension-Related Genotypes and Congenital Heart Defects.
- Published in:
- American Journal of Hypertension, 2021, v. 34, n. 1, p. 82, doi. 10.1093/ajh/hpaa116
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- Publication type:
- Article
Biomass Calculations of Individual Trees Based on Unmanned Aerial Vehicle Multispectral Imagery and Laser Scanning Combined with Terrestrial Laser Scanning in Complex Stands.
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- Remote Sensing, 2022, v. 14, n. 19, p. 4715, doi. 10.3390/rs14194715
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- Publication type:
- Article
Angiotensinogen Gene M235T and T174M Polymorphisms and Susceptibility of Pre-Eclampsia: A Meta-Analysis.
- Published in:
- Annals of Human Genetics, 2012, v. 76, n. 5, p. 377, doi. 10.1111/j.1469-1809.2012.00722.x
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- Publication type:
- Article
Genetic analysis of Wnt/PCP genes in neural tube defects.
- Published in:
- BMC Medical Genomics, 2018, v. 11, p. N.PAG, doi. 10.1186/s12920-018-0355-9
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- Publication type:
- Article
Folate regulation of planar cell polarity pathway and F‐actin through folate receptor alpha.
- Published in:
- FASEB Journal, 2024, v. 38, n. 1, p. 1, doi. 10.1096/fj.202300202R
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- Publication type:
- Article
Functional characterization of a promoter polymorphism in APE1/Ref-1 that contributes to reduced lung cancer susceptibility.
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- FASEB Journal, 2009, v. 23, n. 10, p. 3459, doi. 10.1096/fj.09-136549
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- Publication type:
- Article
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 17, p. 2681, doi. 10.1093/hmg/ddad094
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- Publication type:
- Article
Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.688
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- Publication type:
- Article
Variants identified in PTK7 associated with neural tube defects.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.584
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- Publication type:
- Article
KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency.
- Published in:
- Biology (2079-7737), 2023, v. 12, n. 1, p. 74, doi. 10.3390/biology12010074
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- Publication type:
- Article
FKBP8 variants are risk factors for spina bifida.
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- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3132, doi. 10.1093/hmg/ddaa211
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- Publication type:
- Article
The TFAP2A–IRF6–GRHL3 genetic pathway is conserved in neurulation.
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- Human Molecular Genetics, 2019, v. 28, n. 10, p. 1726, doi. 10.1093/hmg/ddz010
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- Publication type:
- Article
Dominant negative GPR161 rare variants are risk factors of human spina bifida.
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- Human Molecular Genetics, 2019, v. 28, n. 2, p. 200, doi. 10.1093/hmg/ddy339
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- Publication type:
- Article
Correction to: Genetic analysis of Wnt/PCP genes in neural tube defects.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s12920-019-0642-0
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- Publication type:
- Article
Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, n. 1, p. 1, doi. 10.1186/s13046-023-02689-y
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- Publication type:
- Article
Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, n. 1, p. 1, doi. 10.1186/s13046-023-02689-y
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- Publication type:
- Article
Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, n. 1, p. 1, doi. 10.1186/s13046-023-02689-y
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- Publication type:
- Article
Functional characterization of age-dependent p16 epimutation reveals biological drivers and therapeutic targets for colorectal cancer.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, n. 1, p. 1, doi. 10.1186/s13046-023-02689-y
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- Publication type:
- Article
Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases.
- Published in:
- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01285
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- Publication type:
- Article
Approaches to studying the genomic architecture of complex birth defects.
- Published in:
- 2020
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- Publication type:
- journal article
CIC missense variants contribute to susceptibility for spina bifida.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2021, doi. 10.1002/humu.24460
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- Publication type:
- Article
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.
- Published in:
- Human Mutation, 2020, v. 41, n. 4, p. 786, doi. 10.1002/humu.23969
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- Publication type:
- Article
Rare LRP6 Variants Identified in Spina Bifida Patients.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 342, doi. 10.1002/humu.22750
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- Publication type:
- Article
Analysis of archived residual newborn screening blood spots after whole genome amplification.
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- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1747-2
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- Publication type:
- Article
Analysis of archived residual newborn screening blood spots after whole genome amplification.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 602, doi. 10.1186/s12864-015-1747-2
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- Publication type:
- Article
Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 217, doi. 10.1007/s10048-020-00613-6
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- Publication type:
- Article
Excess folic acid intake increases DNA de novo point mutations.
- Published in:
- Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-022-00512-0
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- Publication type:
- Article