E-LIB Suche - Ergebnisse für: Blue, Elizabeth E

1

Advancements in APOE and dementia research: Highlights from..:

Kloske, Courtney M. ; Belloy, Michael E. ; Blue, Elizabeth E....
Alzheimer's & Dementia. , 2024

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

2

Key variants via the Alzheimer's Disease Sequencing Project..:

Wang, Yanbing ; Sarnowski, Chloé ; Lin, Honghuang...
Alzheimer's & Dementia. 20 (2024) 5 - p. 3290-3304 , 2024

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

3

In vitro data suggest a role for PMS2 Kozak sequence mutati..:

Matoy, Evanjalina J. ; Plowman, Jocelyn N. ; Watson, Cynthia J....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100298 , 2024

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

4

Targeted sequencing for hereditary breast and ovarian cance..:

Plowman, Jocelyn N. ; Matoy, Evanjalina J. ; Uppala, Lavanya V....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100306 , 2024

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

5

The power of representation: Statistical analysis of divers..:

Xue, Diane ; Blue, Elizabeth E. ; Conomos, Matthew P..
Alzheimer's & Dementia: Translational Research & Clinical Interventions. 10 (2024) 1 - p. , 2024

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

6

Human microglia show unique transcriptional changes in Alzh..:

Prater, Katherine E. ; Green, Kevin J. ; Mamde, Sainath...
Nature Aging. 3 (2023) 7 - p. 894-907 , 2023

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

7

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/..

8

PRDM1 DNA-binding zinc finger domain is required for normal..:

Truong, Brittany T. ; Shull, Lomeli C. ; Lencer, Ezra...
Disease Models & Mechanisms. 16 (2023) 4 - p. , 2023

Link: https://doi.org/10.1242/..

9

Admixture mapping implicates 13q33.3 as ancestry-of-origin ..:

Horimoto, Andrea R.V.R. ; Boyken, Lisa A. ; Blue, Elizabeth E....
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100207 , 2023

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

10

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/..

11

Precision medicine for developmental and epileptic encephal..:

Esterhuizen, Alina I. ; Tiffin, Nicki ; Riordan, Gillian...
Genetics in Medicine. 25 (2023) 2 - p. 100333 , 2023

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

12

Genetic examination of hematological parameters in SARS-CoV..:

Sun, Quan ; Rowland, Bryce ; Wang, Wanjiang...
Blood Cells, Molecules, and Diseases. 103 (2023) - p. 102782 , 2023

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

13

Association of Pseudomonas aeruginosa infection stage with ..:

Rosenfeld, Margaret ; Faino, Anna V. ; Qu, Pingping...
Journal of Cystic Fibrosis. 22 (2023) 5 - p. 857-863 , 2023

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

14

Dominant‐negative variant in SLC1A4 causes an autosomal dom..:

Pujol‐Giménez, Jonai ; Mirzaa, Ghayda ; Blue, Elizabeth E....
Annals of Clinical and Translational Neurology. 10 (2023) 6 - p. 1046-1053 , 2023

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

15

Leveraging TOPMed imputation server and constructing a coho..:

Sun, Quan ; Liu, Weifang ; Rosen, Jonathan D....
Human Genetics and Genomics Advances. 3 (2022) 2 - p. 100090 , 2022

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