E-LIB Suche - Ergebnisse für: Elsea, Sarah

1

P396: Circadian and behavioral differences with Rai1 haploi..:

Agrons, Kenyon ; Hufft, Gracie ; Elsea, Sarah..
Genetics in Medicine Open. 2 (2024) - p. 101290 , 2024

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

2

P016: Expanded clinical phenotype and the role of untargete..:

Walimbe, Ameya ; Waskow, Emily ; Mackay, Laura...
Genetics in Medicine Open. 2 (2024) - p. 100893 , 2024

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

3

P015: Screening for disorders of GABA metabolism: Integrati..:

Glinton, Kevin ; Gijavanekar, Charul ; Martin, Kirt...
Genetics in Medicine Open. 1 (2023) 1 - p. 100025 , 2023

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

4

P311: A 7.4 Mb duplication of 6p22.1-22.3 in a cognitively ..:

Sobering, Andrew ; Keesee, Victor ; Amellal, Yasseen...
Genetics in Medicine Open. 1 (2023) 1 - p. 100339 , 2023

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

5

Precision Neurology for Dementia (P2-6.002):

Shulman, Joshua ; Vanegas-Arroyave, Nora ; Fong, Jamie...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

6

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3516-3524 , 2022

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

7

eP034: Novel use of global untargeted metabolomics in a pat..:

Tallis, Eran ; Karsenty, Cecile ; Grimes, Amanda...
Genetics in Medicine. 24 (2022) 3 - p. S22-S23 , 2022

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

8

eP176: Metabolomics reveals measurable perturbations in de ..:

Logan, Rachel ; Keller, Stephanie ; Sun, Qin..
Genetics in Medicine. 24 (2022) 3 - p. S107-S108 , 2022

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

9

eP127: Relationships between food-related behaviors, hyperp..:

Gandhi, Anusha ; Wilson, Theresa ; Foster, Rebecca..
Genetics in Medicine. 24 (2022) 3 - p. S79 , 2022

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

10

Bone marrow transplantation in multiple sulfatase deficienc..:

Pillai, Nishitha R. ; Ahrens-Nicklas, Rebecca ; Adang, Laura...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S98 , 2022

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

11

eP013: Novel biomarkers of succinic semialdehyde dehydrogen..:

Gijavanekar, Charul ; Mackay, Laura ; Wilson, Theresa..
Genetics in Medicine. 24 (2022) 3 - p. S8 , 2022

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

12

Cerebrospinal fluid metabolomics uniquely identifies pathwa..:

Berner, Jon ; Elsea, Sarah
Bipolar Disorders. 22 (2020) 8 - p. 874-875 , 2020

Link: https://doi.org/10.1111/..

13

Precision of a Clinical Metabolomics Profiling Platform for..:

Toal, Douglas R ; Elsea, Sarah ; Lennon, John J...
The Journal of Applied Laboratory Medicine. 5 (2020) 2 - p. 342-356 , 2020

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

14

Simultaneous determination of plasma total homocysteine and..:

Jiang, Yi ; Mistretta, Brandon ; Elsea, Sarah.
Clinica Chimica Acta. 464 (2017) - p. 93-97 , 2017

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

15

Clinical Metabolomic Profiling for the Diagnosis of Neurome..:

Wagle, Meeta ; Donti, Taraka ; Sun, Qin..
Neurology. 86 (2016) 16_supplement - p. , 2016

Link: https://doi.org/10.1212/..