E-LIB Suche - Ergebnisse für: Dickson, Patricia

1

Characterization of early markers of disease in the mouse m..:

McCullough, Katherine B. ; Titus, Amanda ; Reardon, Kate...
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

2

D-Mannose as a new therapy for fucokinase deficiency-relate..:

Starosta, Rodrigo ; Lee, Angela ; Toolan, Elizabeth...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108320 , 2024

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

3

Community consensus for Heparan sulfate as a biomarker to s..:

Muenzer, Joseph ; Ho, Carole ; Lau, Heather...
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108535 , 2024

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

4

Using a new analytic approach for genotyping and phenotypin..:

Starosta, Rodrigo Tzovenos ; Jensen, Nathaniel ; Couteranis, Sophia...
European Journal of Human Genetics. , 2024

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

5

Discordance between self-report and performance-based outco..:

Razmjou, Helen ; Robarts, Susan ; Denis, Suzanne...
Journal of Health Psychology. , 2024

Link: https://doi.org/10.1177/..

6

P428: De novo truncating variants in ZNF865: A putative cau..:

Bradbrook, Sam ; Graham, Gail ; Carter, Melissa...
Genetics in Medicine Open. 2 (2024) - p. 101322 , 2024

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

7

P667: Single gene deletion of FGF3 in a patient with featur..:

Rahi, Hamed ; Dickson, Patricia ; Toler, Tomi..
Genetics in Medicine Open. 2 (2024) - p. 101572 , 2024

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

8

Virtual performance measure in osteoarthritis: An innovativ..:

Razmjou, Helen ; Denis, Suzanne ; Robarts, Susan...
Osteoarthritis and Cartilage Open. 5 (2023) 4 - p. 100410 , 2023

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

9

ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS..:

Kaczmarczyk, Aneta ; Lasio, Laura Duque ; Viskochil, David...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 281-282 , 2022

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

10

OP021: Vosoritide for children with achondroplasia: Growth ..:

Irving, Melita ; Hoover-Fong, Julie ; Bacino, Carlos...
Genetics in Medicine. 24 (2022) 3 - p. S352-S353 , 2022

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

11

From karyotypes to precision genomics in 9p deletion and du..:

Sams, Eleanor I. ; Ng, Jeffrey K. ; Tate, Victoria...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100081 , 2022

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

12

Treatment dilemmas in an individual diagnosed with infantil..:

Starosta, Rodrigo T. ; Singh, Prapti ; Nguyen, Hoanh T....
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S116 , 2022

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

13

An adenoviral mediated gene therapy for mucopolysaccharidos..:

Hurt, Sarah ; Le, Steven Q. ; Mendonca, Samir..
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S60 , 2022

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

14

A distal 12p duplication in an adult with dysmorphic charac..:

Hou, Ying Chen ; Dickson, Patricia ; Quirin, Kayla.
Molecular Genetics and Metabolism. 132 (2021) - p. S163-S164 , 2021

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

15

Biochemical predictors of neurocognitive outcomes in Hurler..:

Lund, Troy ; Polgreen, Lynda ; Braunlin, Elizabth...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S68 , 2021

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