E-LIB Suche - Ergebnisse für: Thurm, Audrey

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/..

2

Hydroxocobalamin dose intensification improves ocular, neur..:

Sloan, Jennifer ; Zein, Wadih ; Thurm, Audrey...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108260 , 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

Clinical, genetic, and cognitive correlates of seizure occu..:

Levy, Tess ; Gluckman, Jacob ; Siper, Paige M....
Journal of Neurodevelopmental Disorders. 16 (2024) 1 - p. , 2024

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

5

Intellectual disability and autism in propionic acidemia: a..:

Shchelochkov, Oleg A. ; Farmer, Cristan A. ; Chlebowski, Colby...
Molecular Psychiatry. 29 (2024) 4 - p. 974-981 , 2024

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

6

Evidence for common mechanisms of pathology between SHANK3 ..:

Mitz, Andrew R. ; Boccuto, Luigi ; Thurm, Audrey
Clinical Genetics. 105 (2024) 5 - p. 459-469 , 2024

Link: https://doi.org/10.1111/..

7

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/..

8

Elevated amyloid beta peptides and total tau in cerebrospin..:

Rahhal, Samar ; Farmer, Cristan ; Thurm, Audrey...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101001 , 2023

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

9

Attainment and loss of early social‐communication skills ac..:

Havdahl, Alexandra ; Farmer, Cristan ; Surén, Pål...
Journal of Child Psychology and Psychiatry. 65 (2023) 5 - p. 610-619 , 2023

Link: https://doi.org/10.1111/..

10

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics. 55 (2023) 7 - p. 1149-1163 , 2023

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

11

Posterior superior temporal cortex connectivity is related ..:

Smith, Elizabeth ; Xiao, Yaqiong ; Xie, Hua...
Infant Behavior and Development. 71 (2023) - p. 101831 , 2023

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

12

Comparing ability and norm-referenced scores as clinical tr..:

Farmer, Cristan ; Thurm, Audrey ; Troy, Jesse D..
Journal of Neurodevelopmental Disorders. 15 (2023) 1 - p. , 2023

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

13

CRISIS AFAR: an international collaborative study of the im..:

Vibert, Bethany ; Segura, Patricia ; Gallagher, Louise...
Molecular Autism. 14 (2023) 1 - p. , 2023

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

14

Large 22q13.3 deletions perturb peripheral transcriptomic a..:

Breen, Michael S. ; Fan, Xuanjia ; Levy, Tess...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100145 , 2023

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

15

Deep phenotypic analysis of psychiatric features in genetic..:

Raznahan, Armin ; Rau, Srishti ; Schaffer, Luke...
Journal of Neurodevelopmental Disorders. 15 (2023) 1 - p. , 2023

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