E-LIB Suche - Ergebnisse für: Punj, Sumit

1

P403: Role of comprehensive renal genetic testing in diagno..:

Stein, Quinn ; Mascarenhas, Ryan ; Punj, Sumit...
Genetics in Medicine Open. 2 (2024) - p. 101297 , 2024

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

2

Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testin:

Stein, Quinn ; Vostrizansky, Anna ; Magay, Yelena...
Kidney International Reports. 9 (2024) 6 - p. 1810-1816 , 2024

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

3

Prevalence of Mendelian kidney disease among patients with ..:

da Silva Francisco Jr., Ronaldo ; Punj, Sumit ; Vincent, Lisa...
Kidney International Reports. , 2024

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

4

P110: The influence of monogenic kidney disorders on the ri..:

Xie, Jing ; Punj, Sumit ; Gauthier, Philippe...
Genetics in Medicine Open. 1 (2023) 1 - p. 100139 , 2023

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

5

The Clinical Utility of Genetic Testing in the Diagnosis an..:

Dahl, Neera K. ; Bloom, Michelle S. ; Chebib, Fouad T....
Journal of the American Society of Nephrology. 34 (2023) 12 - p. 2039-2050 , 2023

Link: https://doi.org/10.1681/..

6

Isolated benign persistent proteinuria with novel associati..:

Shi, Vivian ; Stein, Quinn ; Clark, Dinah...
Clinical Case Reports. 11 (2023) 6 - p. , 2023

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

7

P108: Kidney features in patients with a molecular diagnosi..:

Curry, Kathryn ; Hager, Meg ; Anand, Akash...
Genetics in Medicine Open. 1 (2023) 1 - p. 100137 , 2023

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

8

P109: Heterozygous loss-of-function variants in IFT140 are ..:

Clark, Dinah ; Har Lim, Karen Phaik ; Li, Lili...
Genetics in Medicine Open. 1 (2023) 1 - p. 100138 , 2023

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

9

Genetic Etiologies for Chronic Kidney Disease Revealed thro..:

Bleyer, Anthony J. ; Westemeyer, Maggie ; Xie, Jing...
American Journal of Nephrology. 53 (2022) 4 - p. 297-306 , 2022

Link: https://doi.org/10.1159/..

10

eP418: Enabling reclassification of missense variants in PK..:

Xue, Yuan ; Punj, Sumit ; Xie, Jing..
Genetics in Medicine. 24 (2022) 3 - p. S262 , 2022

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

11

COL4A4 variant recently identified: lessons learned in vari..:

Cocorpus, Jenelle ; Hager, Megan M ; Benchimol, Corinne...
BMC Nephrology. 23 (2022) 1 - p. , 2022

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

12

eP323: Case-control study to identify key residues and doma..:

Vincent, Lisa ; Punj, Sumit ; Sanapareddy, Nina...
Genetics in Medicine. 24 (2022) 3 - p. S202 , 2022

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

13

Mosaicism in ASXL3-related syndrome: Description of five pa..:

Schirwani, Schaida ; Hauser, Natalie ; Platt, Anna...
European Journal of Medical Genetics. 63 (2020) 6 - p. 103925 , 2020

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

14

A case for expanding carrier testing to include actionable ..:

Rope, Alan F. ; Kauffman, Tia L. ; Himes, Pat...
Clinical Case Reports. 6 (2018) 11 - p. 2092-2095 , 2018

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

15

AhR activation increases IL‐2 production by alloreactive CD..:

Ehrlich, Allison K. ; Pennington, Jamie M. ; Tilton, Susan...
European Journal of Immunology. 47 (2017) 11 - p. 1989-2001 , 2017

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