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1. A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort. Issue 4 (5th February 2021)

2. Association of a transcobalamin II genetic variant with falsely low results for the holotranscobalamin immunoassay. (15th April 2016)

3. Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women. (July 2015)

4. Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5′-Phosphate Concentration in Healthy Adults. Issue 7 (13th May 2015)

5. Evaluation of proton‐coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts. Issue 4 (20th January 2016)

6. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. Issue 8 (18th June 2022)

7. Exome sequencing identifies variants in infants with sacral agenesis. Issue 7 (10th March 2022)

8. Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children. Issue 10 (5th August 2021)

9. Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data. Issue 20 (21st July 2019)

10. Lifestyle, metabolite, and genetic determinants of formate concentrations in a cross-sectional study in young, healthy adults. Issue 3 (16th March 2018)