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Dickson, Patricia
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

Vosoritide for children with achondroplasia: a 60-month upd..:

Hoover-Fong, Julie ; Irving, Melita ; Bacino, Carlos...
Molecular Genetics and Metabolism.  132 (2021)  - p. S101 , 2021
Link: https://doi.org/10.1016/..
 
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13

Correction: Phenotypic expansion of CACNA1C-associated diso..:

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T....
Genetics in Medicine.  23 (2021)  10 - p. 2016 , 2021
Link: https://doi.org/10.1038/..
 
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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/..
 
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15

Phenotypic expansion of CACNA1C-associated disorders to inc..:

Rodan, Lance H. ; Spillmann, Rebecca C. ; Kurata, Harley T....
Genetics in Medicine.  23 (2021)  10 - p. 1922-1932 , 2021
Link: https://doi.org/10.1038/..
 
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