E-LIB Suche - Ergebnisse für: Elsea, Sarah H.

1

Blind to the perils of pursuing food: Behaviors of individu..:

Elatrash, Citrine ; Shi, Jenna ; Wilson, Theresa..
Genetics in Medicine Open. 2 (2024) - p. 101857 , 2024

2

Consensus guidelines for the diagnosis and management of su..:

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108363 , 2024

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

3

Expanded clinical phenotype and untargeted metabolomics ana..:

Walimbe, Ameya S. ; Machol, Keren ; Kralik, Stephen F....
BMC Neurology. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Investigation of setmelanotide, an MC4R agonist, for obesit..:

Lazareva, Julia ; Sisley, Stephanie R. ; Brady, Sheila M....
Obesity Research & Clinical Practice. , 2024

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

5

Succinic semialdehyde dehydrogenase deficiency: a metabolic..:

Glinton, Kevin E. ; Gijavanekar, Charul ; Rajagopal, Abbhirami...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

6

Memorial: William E. O'Brien, Ph.D:

Elsea, Sarah H. ; Beaudet, Arthur L.
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108435 , 2024

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

7

Broadcasters, receivers, functional groups of metabolites, ..:

Yazdani, Azam ; Mendez-Giraldez, Raul ; Yazdani, Akram...
Metabolomics. 20 (2024) 4 - p. , 2024

Link: https://doi.org/10.1007/..

8

Expanded clinical phenotype and the role of untargeted meta..:

Walimbe, Ameya ; Wasko, Emily ; Mackay, Laura...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108332 , 2024

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

9

Integrating Genome Sequencing and Untargeted Metabolomics i..:

Shaath, Rulan ; Al-Maraghi, Aljazi ; Ali, Haytham...
Metabolites. 14 (2024) 3 - p. 152 , 2024

Link: https://doi.org/10.3390/..

10

Continuing education and professional development: Unifying..:

Valverde, Kathleen D. ; Hartman, Tiffiney R. ; Reichert, Sara L....
Genetics in Medicine Open. , 2024

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

11

Untargeted Metabolomics, Targeted Care: The Clinical Utilit..:

, In: Clinical Metabolomics Applications in Genetic Diseases,

Manor, Joshua ; Elsea, Sarah H. - p. 117-145 , 2023

Link: https://doi.org/10.1007/..

12

Prevalence of DDC genotypes in patients with aromatic L-ami..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107624 , 2023

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

13

Corrigendum to: Prevalence of DDC genotypes in patients wit..:

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107647 , 2023

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

14

COMPREHENSIVE SCREENING OF BLOOD-BASED BIOMARKERS IMPROVES ..:

Gijavanekar, Charul ; Glinton, Kevin E. ; Martin, Kirt A....
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107415 , 2023

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

15

Untargeted Metabolomics in Newborn Screening:

, In: Clinical Metabolomics Applications in Genetic Diseases,

Manor, Joshua ; Elsea, Sarah H. - p. 97-116 , 2023

Link: https://doi.org/10.1007/..