E-LIB Suche - Ergebnisse für: Pangilinan, Faith

1

SLC25A48 is a good candidate for the inner mitochondrial me..:

Bernard, David ; Pangilinan, Faith ; Medina, Caitlin...
Molecular Genetics and Metabolism. , 2024

2

Rare variants in CAPN2 increase risk for isolated hypoplast..:

Blue, Elizabeth E. ; White, Janson J. ; Dush, Michael K....
Human Genetics and Genomics Advances. 4 (2023) 4 - p. 100232 , 2023

Link: https://doi.org/10.1016/..

3

Exome‐wide assessment of isolated biliary atresia: A report..:

Sok, Pagna ; Sabo, Aniko ; Almli, Lynn M....
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1546-1556 , 2023

Link: https://doi.org/10.1002/..

4

Mito-SiPE is a sequence-independent and PCR-free mtDNA enri..:

Walsh, Darren J. ; Bernard, David J. ; Pangilinan, Faith...
Communications Biology. 5 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

5

Exome sequencing identifies genetic variants in anophthalmi..:

Li, Jingjing ; Yang, Wei ; Wang, Yuejun Jessie...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2376-2388 , 2022

Link: https://doi.org/10.1002/..

6

Probing the functional consequence and clinical relevance o..:

Pangilinan, Faith ; Watkins, David ; Bernard, David...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1124-1141 , 2022

Link: https://doi.org/10.1002/..

7

Investigating Genetic Determinants of Plasma Inositol Statu..:

Weston, Eleanor ; Pangilinan, Faith ; Eaton, Simon...
The Journal of Nutrition. 152 (2022) 11 - p. 2333-2342 , 2022

Link: https://doi.org/10.1093/..

8

Exome sequencing of child–parent trios with bladder exstrop..:

Pitsava, Georgia ; Feldkamp, Marcia L. ; Pankratz, Nathan...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3028-3041 , 2021

Link: https://doi.org/10.1002/..

9

A dihydrofolate reductase 2 (DHFR2) variant is associated w..:

Pangilinan, Faith ; Finlay, Emma K. ; Molloy, Anne M....
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1307-1311 , 2021

Link: https://doi.org/10.1002/..

10

Assessing the genetic association between vitamin B6 metabo..:

Stevelink, Remi ; Pangilinan, Faith ; Jansen, Floor E....
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100518 , 2019

Link: https://doi.org/10.1016/..

11

The 677C→T variant of MTHFR is the major genetic modifier o..:

Shane, Barry ; Pangilinan, Faith ; Mills, James L...
The American Journal of Clinical Nutrition. 108 (2018) 6 - p. 1334-1341 , 2018

Link: https://doi.org/10.1093/..

12

Lifestyle, metabolite, and genetic determinants of formate ..:

Brosnan, John T ; Mills, James L ; Ueland, Per M...
The American Journal of Clinical Nutrition. 107 (2018) 3 - p. 345-354 , 2018

Link: https://doi.org/10.1093/..

13

The impact of common genetic variants in the mitochondrial ..:

O'Reilly, Jessica ; Pangilinan, Faith ; Hokamp, Karsten...
Molecular Genetics and Metabolism Reports. 16 (2018) - p. 20-22 , 2018

Link: https://doi.org/10.1016/..

14

Mice lacking the transcobalamin-vitamin B12 receptor, CD320..:

Bernard, David J ; Pangilinan, Faith J ; Cheng, Jun..
Human Molecular Genetics. 27 (2018) 20 - p. 3627-3640 , 2018

Link: https://doi.org/10.1093/..

15

The FUT2 secretor variant p.Trp154Ter influences serum vita..:

Velkova, Aneliya ; Diaz, Jennifer E L ; Pangilinan, Faith...
Human Molecular Genetics. 26 (2017) 24 - p. 4975-4988 , 2017

Link: https://doi.org/10.1093/..