E-LIB Suche - Ergebnisse für: Klämbt, Verena

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

Exome sequencing identifies a likely causative variant in 5..:

Deutsch, Konstantin ; Klämbt, Verena ; Kitzler, Thomas M....
Genes & Diseases. 11 (2024) 5 - p. 101111 , 2024

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

3

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/..

4

Correction to: Different approaches to long-term treatment ..:

Klämbt, Verena ; Gimpel, Charlotte ; Bald, Martin...
Pediatric Nephrology. 36 (2021) 12 - p. 4015-4015 , 2021

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

5

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/..

6

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/..

7

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/..

8

Phenotype expansion of heterozygous FOXC1 pathogenic varian..:

Wu, Chen-Han Wilfred ; Mann, Nina ; Nakayama, Makiko...
Genetics in Medicine. 22 (2020) 10 - p. 1673-1681 , 2020

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

9

Different approaches to long-term treatment of aHUS due to ..:

Klämbt, Verena ; Gimpel, Charlotte ; Bald, Martin...
Pediatric Nephrology. 36 (2020) 2 - p. 463-471 , 2020

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

10

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/..

11

Ribavirin therapy of hepatitis E infection may cause hypore..:

Klämbt, Verena ; Panning, Marcus ; Seidl, Maximilian..
Pediatric Transplantation. 22 (2018) 4 - p. , 2018

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

12

Reverse phenotyping facilitates disease allele calling in e..:

Seltzsam, Steve ; Wang, Chunyan ; Zheng, Bixia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876311/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syn..:

Mann, Nina ; Mzoughi, Slim ; Schneider, Ronen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920168/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Correction to: Different approaches to long-term treatment ..:

Klämbt, Verena ; Gimpel, Charlotte ; Bald, Martin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172677/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Multisystem inflammation and susceptibility to viral infect..:

Vavassori, Stefano ; Chou, Janet ; Faletti, Laura Eva...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569286/. , 2021

Link: http://www.ncbi.nlm.nih...