E-LIB Suche - Ergebnisse für: Hoefele, J.

1

POS-832 PRIMARY CoQ10 DEFICIENCY: A RARE, TREATABLE HEREDIT..:

DROVANDI, S. ; Lipska-Ziętkiewicz Stefania, B. ; Ozaltin, F....
Kidney International Reports. 7 (2022) 2 - p. S358 , 2022

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

2

Genetik in der Nephrologie:

Heemann, U. ; Hoefele, J.
Der Nephrologe. 12 (2017) 4 - p. 240-240 , 2017

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

3

Methoden in der Humangenetik:

Hoefele, J.
Der Nephrologe. 12 (2017) 4 - p. 271-278 , 2017

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

4

COL4A5-associated X-linked Alport syndrome in a female pati..:

Strasser, K. ; Hoefele, J. ; Bergmann, C....
Nephrology Dialysis Transplantation. 27 (2012) 11 - p. 4236-4240 , 2012

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

5

Novel PKD1 and PKD2 mutations in autosomal dominant polycys..:

Hoefele, J. ; Mayer, K. ; Scholz, M..
Nephrology Dialysis Transplantation. 26 (2010) 7 - p. 2181-2188 , 2010

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

6

Mapping of a new locus for congenital anomalies of the kidn..:

Ashraf, S. ; Hoskins, B. E. ; Chaib, H....
Nephrology Dialysis Transplantation. 25 (2009) 5 - p. 1496-1501 , 2009

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

7

BK virus induced nephritis in a boy with acute myeloid leuk..:

Hoefele, J. ; Russmann, D. ; Klein, B...
Clinical Kidney Journal. 1 (2008) 5 - p. 336-339 , 2008

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

8

Nephronophthise: Neueste Erkenntnisse in der molekularen Di..:

Hoefele, J. ; Hildebrandt, F. ; Benz, M.R..
Der Nephrologe. 2 (2007) 5 - p. 372-376 , 2007

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

9

Missense mutations in EYA1 and TCF2 are a rare cause of uri..:

Hoskins, B. E. ; Cramer, C. H. ; Tasic, V....
Nephrology Dialysis Transplantation. 23 (2007) 2 - p. 777-779 , 2007

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

10

Multiple urinary tract malformations with likely recessive ..:

Pasch, A. ; Hoefele, J. ; Grimminger, H...
Nephrology Dialysis Transplantation. 19 (2004) 12 - p. 3172-3175 , 2004

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

11

Ross procedure using the 'Bovine jugular vein' graft to bri..:

Dave, H ; Dodge-Khatami, A ; El-Emam, M....
Indian Journal of Thoracic and Cardiovascular Surgery. 20 (2004) 1 - p. 24-24 , 2004

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

12

Is there a dominant‐negative effect in individuals with het..:

Riedhammer, Korbinian M. ; Simmendinger, Hannes ; Tasic, Velibor...
Clinical Genetics. 105 (2024) 4 - p. 406-414 , 2024

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

13

Next-generation sequencing and comprehensive data reassessm..:

Krenn, Martin ; Wagner, Matias ; Zulehner, Gudrun...
Journal of Neurology. 271 (2023) 4 - p. 1937-1946 , 2023

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

14

Exome sequencing in individuals with congenital anomalies o..:

Riedhammer, Korbinian M. ; Ćomić, Jasmina ; Tasic, Velibor...
European Journal of Human Genetics. 31 (2023) 6 - p. 674-680 , 2023

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

15

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/..