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Acosta, Maria T.
4055
results:
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english (3096)
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1
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/..
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2
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/..
?
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
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/..
?
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
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/..
?
7
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/..
?
8
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/..
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9
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/..
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10
Bi-allelic ATG4D variants are associated with a neurodevelo..:
Morimoto, Marie
;
Bhambhani, Vikas
;
Gazzaz, Nour
...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
11
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/..
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12
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/..
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13
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/..
?
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
Genomics Research with Undiagnosed Children: Ethical Challe..:
Halley, Meghan C.
;
Young, Jennifer L.
;
Tang, Charis
...
The Journal of Pediatrics. 261 (2023) - p. 113537 , 2023
Link:
https://doi.org/10.1016/..
1-15