E-LIB Suche - Ergebnisse für: Florian Buerger

1

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/..

2

Phenotypic quantification of Nphs1-deficient mice:

Schneider, Ronen ; Mansour, Bshara ; Kolvenbach, Caroline M....
Journal of Nephrology. , 2024

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

3

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

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

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

4

Quantifiable and reproducible phenotypic assessment of a co..:

Lemberg, Katharina ; Mertens, Nils D. ; Yousef, Kirollos...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

5

Normothermic Ex Situ Machine Perfusion of Vascularized Comp..:

Haug, Valentin ; Peng, Yifeng ; Tchiloemba, Bianief...
Journal of Clinical Medicine. 12 (2023) 20 - p. 6568 , 2023

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

6

Genetic stratification reveals COL4A variants and spontaneo..:

Elshafey, Samar Atef ; Thabet, Mohamed Alaa Eldin Hassan ; Abo Elwafa, Reham Abdel Haleem...
Acta Paediatrica. 112 (2023) 6 - p. 1324-1332 , 2023

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

7

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/..

8

A Case Report: First Long-Term Treatment With Burosumab in ..:

Merz, Lea Maria ; Buerger, Florian ; Ziegelasch, Niels...
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

9

Limbal BCAM expression identifies a proliferative progenito..:

Sasamoto, Yuzuru ; Lee, Catherine A.A. ; Wilson, Brian J....
Cell Reports. 40 (2022) 6 - p. 111166 , 2022

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

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

Depletion of Jmjd1c impairs adipogenesis in murine 3T3-L1 c..:

Buerger, Florian ; Müller, Silvana ; Ney, Nadja...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863 (2017) 7 - p. 1709-1717 , 2017

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