E-LIB Suche - Ergebnisse für: Petzold, Friederike

1

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports. , 2024

2

Objectivizing issues in the diagnosis of complex rare disea..:

Faviez, Carole ; Chen, Xiaoyi ; Garcelon, Nicolas...
BMC Medical Informatics and Decision Making. 24 (2024) 1 - p. , 2024

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

3

Extended genomic HLA typing identifies previously unrecogni..:

Lehmann, Claudia ; Pehnke, Sarah ; Weimann, Antje...
Frontiers in Immunology. 14 (2023) - p. , 2023

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

4

Delta weight loss unlike genetic variation associates with ..:

Scherer, Lotte ; Schönauer, Ria ; Nemitz-Kliemchen, Melanie...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

5

A rare combination of hydronephrosis, megaureter, and hyper..:

Merz, Lea Maria ; Hentschel, Julia ; Roth, Christian...
Kidney International. 104 (2023) 5 - p. 1039-1040 , 2023

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

6

Clinical and Functional Assessment of Digenicity in Renal P..:

Petzold, Friederike ; Schönauer, Ria ; Werner, Andreas.
Nutrients. 15 (2023) 9 - p. 2081 , 2023

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

7

Mechanisms of pathogenicity and the quest for genetic modif..:

Sewerin, Sebastian ; Aurnhammer, Charlotte ; Skubic, Cene...
Clinical Kidney Journal. 17 (2023) 1 - p. , 2023

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

8

The genetic landscape and clinical spectrum of nephronophth..:

Petzold, Friederike ; Billot, Katy ; Chen, Xiaoyi...
Kidney International. 104 (2023) 2 - p. 378-387 , 2023

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

9

Novel somatic PBX1 mosaicism likely masking syndromic CAKUT..:

Petzold, Friederike ; Jin, Wenjun ; Hantmann, Elena...
Clinical Kidney Journal. 15 (2022) 7 - p. 1333-1339 , 2022

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

10

Matching clinical and genetic diagnoses in autosomal domina..:

Schönauer, Ria ; Baatz, Sebastian ; Nemitz-Kliemchen, Melanie...
Genetics in Medicine. 22 (2020) 8 - p. 1374-1383 , 2020

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

11

P0060COMBINED NOVEL PBX1 AND RET VARIANTS IN AN ADULT WITH ..:

Halbritter, Jan ; Petzold, Friederike
Nephrology Dialysis Transplantation. 35 (2020) Supplement_3 - p. , 2020

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

12

SP031GOLD, SILVER, AND BRONZE WITH HIS FATHER´S KIDNEY: A L..:

Petzold, Friederike ; Bachmann, Anette ; Amann, Kerstin...
Nephrology Dialysis Transplantation. 34 (2019) Supplement_1 - p. , 2019

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

13

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent E..:

Schönauer, Ria ; Petzold, Friederike ; Lucinescu, Wilhelmina...
Urolithiasis. 47 (2019) 6 - p. 511-519 , 2019

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

14

Retrospective genetic analysis illustrates the spectrum of ..:

Petzold, Friederike ; Bachmann, Anette ; Bergmann, Carsten..
BMC Nephrology. 20 (2019) 1 - p. , 2019

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

15

Diffusion imaging-based subdivision of the human hypothalam..:

Schönknecht, Peter ; Anwander, Alfred ; Petzold, Friederike...
European Archives of Psychiatry and Clinical Neuroscience. 263 (2013) 6 - p. 497-508 , 2013

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