E-LIB Suche - Ergebnisse für: Savige, Judy

1

Drusen and Other Retinal Findings in People With IgA Glomer..:

Greferath, Ursula ; Fletcher, Erica ; Savige, Judy.
American Journal of Ophthalmology. 257 (2024) - p. 247-253 , 2024

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

2

Syndromic PRD: case report of McArdle retinopathy and revie..:

Abdul, Rahman ; Fazio, Timothy ; Savige, Judy.
Canadian Journal of Ophthalmology. , 2024

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

3

Ocular manifestations of the genetic renal tubulopathies:

Yang, GeFei ; Mack, Heather ; Harraka, Philip..
Ophthalmic Genetics. 44 (2023) 6 - p. 515-529 , 2023

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

4

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephro..:

Deltas, Constantinos ; Papagregoriou, Gregory ; Louka, Stavroula F....
Genes. 14 (2023) 9 - p. 1686 , 2023

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

5

A comparison of the ocular features in Pierson and Alport s..:

Gooley, Kieran ; Williams, Peter ; Mack, Heather...
Ophthalmic Genetics. 44 (2023) 5 - p. 417-422 , 2023

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

6

Population Frequency of Undiagnosed Fabry Disease in the Ge..:

Kermond-Marino, Amalia ; Weng, Annie ; Xi Zhang, Selina Kai...
Kidney International Reports. 8 (2023) 7 - p. 1373-1379 , 2023

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

7

A founder COL4A4 pathogenic variant resulting in autosomal ..:

Plevova, Pavlina ; Indrakova, Jana ; Savige, Judy...
Frontiers in Medicine. 10 (2023) - p. , 2023

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

8

Ocular manifestations of the genetic causes of focal and se..:

Zhu, Victor ; Huang, Tess ; Wang, David...
Pediatric Nephrology. 39 (2023) 3 - p. 655-679 , 2023

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

9

Ocular manifestations of renal ciliopathies:

Salehi, Omar ; Mack, Heather ; Colville, Deb..
Pediatric Nephrology. 39 (2023) 5 - p. 1327-1346 , 2023

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

10

Correction: The 2019 and 2021 International workshops on Al..:

Daga, Sergio ; Ding, Jie ; Deltas, Constantinos...
European Journal of Human Genetics. 32 (2023) 1 - p. 130-130 , 2023

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

11

Ocular manifestations of congenital anomalies of the kidney..:

Virth, James ; Mack, Heather G. ; Colville, Deb..
Pediatric Nephrology. 39 (2023) 2 - p. 357-369 , 2023

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

12

Retinal small vessel narrowing in women with gestational di..:

Phillipos, Joseph ; Luong, Thao Vi ; Chang, Deborah...
Frontiers in Medicine. 10 (2023) - p. , 2023

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

13

What patients want to know about genetic testing for kidney..:

Savige, Judy ; Weinstock, B. André
Frontiers in Medicine. 10 (2023) - p. , 2023

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

14

Correction: Consensus statement on standards and guidelines..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
European Journal of Human Genetics. 32 (2023) 1 - p. 132-132 , 2023

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

15

A Systematic Review of Pathogenic COL4A5 Variants and Prote..:

Gibson, Joel T. ; de Gooyer, Mikayla ; Huang, Mary.
Kidney International Reports. 7 (2022) 11 - p. 2454-2461 , 2022

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