E-LIB Suche - Ergebnisse für: Huryn, Laryssa A

1

P657: Structural variants identified by short-read genome s..:

Ullah, Ehsan ; Naik, Amelia ; Bender, Chelsea...
Genetics in Medicine Open. 2 (2024) - p. 101562 , 2024

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

2

Neuropathy target esterase activity defines phenotypes amon..:

Liu, James ; He, Yi ; Lwin, Cara...
Brain. 147 (2024) 6 - p. 2085-2097 , 2024

Link: https://doi.org/10.1093/..

3

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/..

4

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/..

5

Genotype–Phenotype Association in ABCA4-Associated Retinopa..:

, In: Retinal Degenerative Diseases XIX; Advances in Experimental Medicine and Biology,

Pfau, Maximilian ; Zein, Wadih M. ; Huryn, Laryssa A.... - p. 289-295 , 2023

Link: https://doi.org/10.1007/..

6

Chromosomal microarray analysis supplements exome sequencin..:

Beers, Breanna J. ; Similuk, Morgan N. ; Ghosh, Rajarshi...
Frontiers in Immunology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

Investigating Determinants and Evaluating Deep Learning Tra..:

Malechka, Volha V. ; Duong, Dat ; Bordonada, Keyla D....
Ophthalmology Science. 3 (2023) 1 - p. 100225 , 2023

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

8

Visualization of erythrocyte stasis in the living human eye..:

Li, Joanne ; Wang, Dongyi ; Pottenburgh, Jessica...
iScience. 26 (2023) 1 - p. 105755 , 2023

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

9

Natural History of Visual Dysfunction in ABCA4 Retinopathy ..:

Pfau, Maximilian ; Huryn, Laryssa A. ; Boyle, Marisa P....
American Journal of Ophthalmology. 253 (2023) - p. 224-232 , 2023

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

10

Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Opti..:

Huryn, Laryssa A. ; Kozycki, Christina Torres ; Serpen, Jasmine Y....
Ophthalmology. 130 (2023) 4 - p. 423-432 , 2023

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

11

RPGR: Deep Phenotyping and Genetic Characterization With Fi..:

Benson, Matthew D. ; Mukherjee, Souvick ; Agather, Aime R....
Investigative Opthalmology & Visual Science. 64 (2023) 12 - p. 19 , 2023

Link: https://doi.org/10.1167/..

12

P336: Resolving missing heritability by iterative multidisc..:

Ullah, Ehsan ; Guan, Bin ; Naik, Amelia...
Genetics in Medicine Open. 1 (2023) 1 - p. 100364 , 2023

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

13

Novel ophthalmic findings and deep phenotyping in Williams-..:

Huryn, Laryssa A ; Flaherty, Taylor ; Nolen, Rosalie...
British Journal of Ophthalmology. 107 (2022) 10 - p. 1554-1559 , 2022

Link: https://doi.org/10.1136/..

14

Scotopic Contour Deformation Detection Reveals Early Rod Dy..:

Jeffrey, Brett G. ; Flynn, Oliver J. ; Huryn, Laryssa A...
Investigative Opthalmology & Visual Science. 63 (2022) 6 - p. 23 , 2022

Link: https://doi.org/10.1167/..

15

Widespread subclinical cellular changes revealed across a n..:

Aguilera, Nancy ; Liu, Tao ; Bower, Andrew J....
Communications Biology. 5 (2022) 1 - p. , 2022

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