E-LIB Suche - Ergebnisse für: Acosta, Maria T.

1

Methods for Neuroscience Drug Development: Guidance on Stan..:

Zaragoza Domingo, Silvia ; Alonso, Jordi ; Ferrer, Montse...
European Neuropsychopharmacology. 83 (2024) - p. 32-42 , 2024

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

2

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine. 26 (2024) 6 - p. 101115 , 2024

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

3

Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gang..:

D'Souza, Precilla ; Johnston, Jean M. ; Thurm, Audrey...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107802 , 2024

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

4

Loss of function of FAM177A1, a Golgi complex localized pro..:

Kohler, Jennefer N. ; Legro, Nicole R. ; Baldridge, Dustin...
Genetics in Medicine. , 2024

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

5

Large-scale mutational analysis identifies UNC93B1 variants..:

Rael, Victoria E. ; Yano, Julian A. ; Huizar, John P....
Journal of Experimental Medicine. 221 (2024) 8 - p. , 2024

Link: https://doi.org/10.1084/..

6

Comparing GM1 gangliosidosis patients treated and untreated..:

Acosta, Maria T. ; Lewis, Connor J. ; Vardar, Zeynep...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107743 , 2024

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

7

GM1 gangliosidosis type II: Results of a 10-year prospectiv..:

D'Souza, Precilla ; Farmer, Cristan ; Johnston, Jean M....
Genetics in Medicine. 26 (2024) 7 - p. 101144 , 2024

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

8

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics. 25 (2024) 1 - p. , 2024

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

9

Risks and benefits of anesthesia for combined pediatric pro..:

Macnamara, Ellen F. ; Loydpierson, Amelia ; Latour, Yvonne L....
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107707 , 2023

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

10

Biallelic variants in ribonuclease inhibitor (RNH1), an inf..:

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca...
Genetics in Medicine. 25 (2023) 9 - p. 100897 , 2023

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

11

Participation in a national diagnostic research study: asse..:

Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

12

Glb1 knockout mouse model shares natural history with type ..:

Nicoli, Elena-Raluca ; Huebecker, Mylene ; Han, Sangwoo T....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107508 , 2023

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

13

P094: Clinical and MRI correlations in GM1 patients: Findin..:

Acosta, Maria T. ; Vardar, Zeynep ; D'Souza, Precilla...
Genetics in Medicine Open. 1 (2023) 1 - p. 100123 , 2023

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

14

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

15

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023

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