E-LIB Suche - Ergebnisse für: Sutton, V. Reid

1

Clinical and biochemical characterization of a patient with..:

Coody, Troy ; De Biase, Irene ; Sutton, V. Reid..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108215 , 2024

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

2

Succinic semialdehyde dehydrogenase deficiency: review of t..:

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

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

3

Monitoring and integrated care coordination of patients wit..:

Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. , 2024

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

4

Psychosocial Outcomes of Pain and Pain Management in Adults..:

Shepherd, Whitney S. ; Wiese, Andrew D. ; Cho, Hannah E....
Journal of Clinical Psychology in Medical Settings. , 2024

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

5

Effective algorithm to differentiate NBS MCADD cases from f..:

Snyder, Matthew ; Divin, Kristian ; Liu, Ning...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108168 , 2024

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

6

The impact of the Turkish population variome on the genomic..:

Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C....
Genetics in Medicine Open. 2 (2024) - p. 101830 , 2024

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

7

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107974 , 2024

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

8

Velmanase alfa approved for treatment of non-central nervou..:

Lander, Julie M. ; Penon-Portmann, Monica ; Sutton, V. Reid.
Genetics in Medicine Open. 2 (2024) - p. 101832 , 2024

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

9

SUCCESSFUL OUTPATIENT TRANSITION TO EXTENDED-RELEASE CORNST..:

Snyder, Matthew ; Rawls-Castillo, Brandy ; Aquino, Nathaly...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107491 , 2023

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

10

Approach to the Patient: Pharmacological Therapies for Frac..:

Liu, Winnie ; Lee, Brendan ; Nagamani, Sandesh C S...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 7 - p. 1787-1796 , 2023

Link: https://doi.org/10.1210/..

11

Corrigendum to "Elevated amyloid beta peptides and total ta..:

Rahhal, Samar ; Farmer, Cristan ; Thurm, Audrey...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101013 , 2023

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

12

Dominant negative variants in KIF5B cause osteogenesis impe..:

Marom, Ronit ; Zhang, Bo ; Washington, Megan E....
PLOS Genetics. 19 (2023) 11 - p. e1011005 , 2023

Link: https://doi.org/10.1371/..

13

Elevated amyloid beta peptides and total tau in cerebrospin..:

Rahhal, Samar ; Farmer, Cristan ; Thurm, Audrey...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101001 , 2023

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

14

Differences in Hyperandrogenism Related to Early Detection ..:

McCann-Crosby, Bonnie ; Liang, Mark C. ; Geffner, Mitchell E....
International Journal of Neonatal Screening. 9 (2023) 3 - p. 50 , 2023

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

15

A qualitative exploration of patient perspectives on psycho..:

Rork, W. Conor ; Hertz, Alyssa G. ; Wiese, Andrew D....
American Journal of Medical Genetics Part A. , 2023

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