E-LIB Suche - Ergebnisse für: Majmundar, Amar J.

1

Expanding the spectrum of novel candidate genes using trio ..:

Schneider, Ronen ; Shril, Shirlee ; Buerger, Florian...
Genes & Diseases. , 2024

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

2

Endothelial HIF-2α regulates murine pathological angiogenes..:

Skuli, Nicolas ; Majmundar, Amar J. ; Krock, Bryan L....
Journal of Clinical Investigation. 134 (2024) 8 - p. , 2024

Link: https://doi.org/10.1172/..

3

OXGR1 is a candidate disease gene for human calcium oxalate..:

Majmundar, Amar J. ; Widmeier, Eugen ; Heneghan, John F....
Genetics in Medicine. 25 (2023) 3 - p. 100351 , 2023

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

4

Reverse phenotyping facilitates disease allele calling in e..:

Seltzsam, Steve ; Wang, Chunyan ; Zheng, Bixia...
Genetics in Medicine. 24 (2022) 2 - p. 307-318 , 2022

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

5

Activation of 2‐oxoglutarate receptor 1 (OXGR1) by α‐ketogl..:

Heneghan, John F. ; Majmundar, Amar J. ; Rivera, Alicia...
Physiological Reports. 10 (2022) 14 - p. , 2022

Link: https://doi.org/10.14814..

6

A Novel Form of Familial Vasopressin Deficient Diabetes Ins..:

Habiby, Reema ; Bichet, Daniel G ; Arthus, Marie-Francoise...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 6 - p. e2513-e2522 , 2022

Link: https://doi.org/10.1210/..

7

Sequencing the CaSR locus in Pakistani stone formers reveal..:

Ullah, Ihsan ; Ottlewski, Isabel ; Shehzad, Wasim...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

8

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine. 23 (2021) 6 - p. 1158-1162 , 2021

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

9

Cystin genetic variants cause autosomal recessive polycysti..:

Yang, Chaozhe ; Harafuji, Naoe ; O'Connor, Amber K....
Scientific Reports. 11 (2021) 1 - p. , 2021

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

10

Generation of Monogenic Candidate Genes for Human Nephrotic..:

Klämbt, Verena ; Mao, Youying ; Schneider, Ronen...
Kidney International Reports. 6 (2021) 2 - p. 460-471 , 2021

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

11

RecessiveNOS1APvariants impair actin remodeling and cause g..:

Majmundar, Amar J. ; Buerger, Florian ; Forbes, Thomas A....
Science Advances. 7 (2021) 1 - p. , 2021

Link: https://doi.org/10.1126/..

12

Recessive Mutations in SYNPO2 as a Candidate of Monogenic N..:

Mao, Youying ; Schneider, Ronen ; van der Ven, Peter F.M....
Kidney International Reports. 6 (2021) 2 - p. 472-483 , 2021

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

13

Mutations in transcription factor CP2-like 1 may cause a no..:

Klämbt, Verena ; Werth, Max ; Onuchic-Whitford, Ana C...
Nephrology Dialysis Transplantation. 36 (2020) 2 - p. 237-246 , 2020

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

14

COL4A1 mutations as a potential novel cause of autosomal do..:

Kitzler, Thomas M. ; Schneider, Ronen ; Kohl, Stefan...
Human Genetics. 138 (2019) 10 - p. 1105-1115 , 2019

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

15

Whole exome sequencing in childhood-onset lupus frequently ..:

Tirosh, Irit ; Spielman, Shiri ; Barel, Ortal...
Pediatric Rheumatology. 17 (2019) 1 - p. , 2019

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