E-LIB Suche - Ergebnisse für: Hufnagel, Robert B

1

Modelling Retinal Vascular Diseases in Zebrafish:

, In: Essentials in Ophthalmology; Advances in Vision Research, Volume IV,

Tuncay, Fulya Yaylacıoğlu ; Hufnagel, Robert B. - p. 355-370 , 2024

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

2

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open. , 2024

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

3

High Clinical Exome Sequencing Diagnostic Rates and Novel P..:

Kunisetty, Bhavana ; Martin-Giacalone, Bailey A. ; Zhao, Xiaonan...
Investigative Opthalmology & Visual Science. 65 (2024) 3 - p. 25 , 2024

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

4

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/..

5

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/..

6

A Comprehensive Report of Intrinsically Disordered Regions ..:

Lee, Karen E. ; Pulido, Jose S. ; da Palma, Mariana M....
Genes. 14 (2023) 8 - p. 1601 , 2023

Link: https://doi.org/10.3390/..

7

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/..

8

A Spontaneous Nonhuman Primate Model of Myopic Foveoschisis:

Sin, Tzu-Ni ; Kim, Sangbae ; Li, Yumei...
Investigative Opthalmology & Visual Science. 64 (2023) 1 - p. 18 , 2023

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

9

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/..

10

A novel variant affecting the cytoplasmic tail of the FAT1 ..:

Vieta-Ferrer, Emile R. ; Ullah, Ehsan ; Blain, Delphine...
Ophthalmic Genetics. 44 (2023) 2 - p. 182-185 , 2023

Link: https://doi.org/10.1080/..

11

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/..

12

Dynamic changes in ocular shape during human development an..:

Rasys, Ashley M. ; Wegerski, Andrew ; Trainor, Paul A....
BioEssays. 46 (2023) 1 - p. , 2023

Link: https://doi.org/10.1002/..

13

Prenatal and infantile diagnosis of craniosynostosis in ind..:

Serbinski, Carolyn R. ; Vanderwal, April ; Chadwell, Sarah E....
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 195-202 , 2023

Link: https://doi.org/10.1002/..

14

Compendium of Clinical Variant Classification for 2,246 Uni..:

Cornelis, Stéphanie S. ; Bauwens, Miriam ; Haer-Wigman, Lonneke...
Human Mutation. 2023 (2023) - p. 1-12 , 2023

Link: https://doi.org/10.1155/..

15

Variants of LRP2, encoding a multifunctional cell‐surface e..:

Faridi, Rabia ; Yousaf, Rizwan ; Gu, Shoujun...
Clinical Genetics. 103 (2023) 6 - p. 699-703 , 2023

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