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Ahrens-Nicklas, Rebecca
127  Ergebnisse:
Personensuche X
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1

Dentate gyrus developmental timeline in CLN3 (Batten diseas..:

Burris, Devin M. ; Singh, Jeet B. ; Tecedor, Luis.
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107781 , 2024
Link: https://doi.org/10.1016/..
 
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2

Patient-derived NGN2-induced neurons recapitulate biochemic..:

Cassidy, Margaret M. ; Pham, Vi ; Finoti, Livia Sertori...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107788 , 2024
Link: https://doi.org/10.1016/..
 
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3

P260: Healthcare utilization in pediatric patients with Noo..:

Reef, Rebecca ; Rippert, Alyssa ; Cook, Edward..
Genetics in Medicine Open.  2 (2024)  - p. 101156 , 2024
Link: https://doi.org/10.1016/..
 
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4

The impact of multiple sulfatase deficiency on children and..:

Yu, Emily ; Gavazzi, Francesco ; Schlotawa, Lars...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108091 , 2024
Link: https://doi.org/10.1016/..
 
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5

P178: Longitudinal neurodevelopmental and medical outcomes ..:

Rippert, Alyssa ; Cook, Edward ; Nair, Divya..
Genetics in Medicine Open.  2 (2024)  - p. 101075 , 2024
Link: https://doi.org/10.1016/..
 
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6

Single vs. dual transgenegene therapy for multiple sulfatas..:

Pham, Vi ; Tricoli, Lucas ; Wongkittichote, Parith...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107996 , 2024
Link: https://doi.org/10.1016/..
 
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7

Off-label use of agalsidase beta and immune tolerance induc..:

Pressley, Shaney ; Menello, Caitlin ; Adang, Laura A..
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108004 , 2024
Link: https://doi.org/10.1016/..
 
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8

Design of a Multi-Center Randomized Active Controlled Phase..:

Gupta, Ashish O. ; Wynn, Robert F ; Kharbanda, Sandhya...
Transplantation and Cellular Therapy.  30 (2024)  2 - p. S236-S237 , 2024
Link: https://doi.org/10.1016/..
 
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9

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy.  26 (2024)  7 - p. 739-748 , 2024
Link: https://doi.org/10.1016/..
 
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10

Generation and characterization of multiple sulfatase defic..:

Finoti, Livia Sertori ; Pham, Vi ; Cassidy, Margaret...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108040 , 2024
Link: https://doi.org/10.1016/..
 
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11

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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12

Design of a multi-center randomized active controlled phase..:

Orchard, Paul J. ; Wynn, Robert F. ; Kharbanda, Sandhya...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107988 , 2024
Link: https://doi.org/10.1016/..
 
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13

P037: Design of a multi-center randomized phase 3 clinical ..:

Harmatz, Paul ; Wynn, Robert ; Gupta, Ashish...
Genetics in Medicine Open.  2 (2024)  - p. 100914 , 2024
Link: https://doi.org/10.1016/..
 
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14

P209: Diagnostic yield and clinical utility of whole exome ..:

Keisling, Julia ; Ritter, Alyssa ; Ahrens-Nicklas, Rebecca.
Genetics in Medicine Open.  1 (2023)  1 - p. 100237 , 2023
Link: https://doi.org/10.1016/..
 
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15

Evaluating the Utility of a New Pathogenicity Predictor for..:

Rippert, Alyssa L. ; Trackman, Sarah ; Burstein, Danielle...
Human Mutation.  2023 (2023)  - p. 1-8 , 2023
Link: https://doi.org/10.1155/..
 
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