Suchergebnisse - "Riedhammer, Korbinian M"

PubPharm (55)

1

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

enthalten in: Kidney international | 2024

von Riedhammer, K. | Nguyen, T. | Koşukcu, C. | +57

UpdateOf: medRxiv. 2023 Mar 22;:. - PMID 36993625

2

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

enthalten in: Clinical genetics | 2024

von Riedhammer, K. | Simmendinger, H. | Tasic, V. | +12

3

Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?

enthalten in: Clinical Genetics | 2024

von Riedhammer, K. | Simmendinger, H. | Tasic, V. | +12

4

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

enthalten in: bioRxiv.org | 2023

von Schmidt, A. | Danyel, M. | Grundmann, K. | +167

5

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT) : a single-center experience

enthalten in: European journal of human genetics : EJHG | 2023

von Riedhammer, K. | Ćomić, J. | Tasic, V. | +9

6

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

enthalten in: American journal of human genetics | 2023

von Schönauer, R. | Jin, W. | Findeisen, C. | +38

7

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

enthalten in: Science advances | 2023

von Patterson, V. | Ullah, F. | Bryant, L. | +48

ErratumIn: Sci Adv. 2023 Nov 24;9(47):eadl5515. - PMID 38000037

8

Implication ofFOXD2dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

enthalten in: bioRxiv.org | 2023

von Riedhammer, K. | Nguyen, T. | Koşukcu, C. | +49

9

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Riedhammer, K. | Nguyen, T. | Koşukcu, C. | +49

UpdateIn: Kidney Int. 2023 Dec 26;:. - PMID 38154558

10

Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp) : a prospective cohort study

enthalten in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2022

von Boeckhaus, J. | Hoefele, J. | Riedhammer, K. | +9

1
2
3
4
5
6
Nächster »
[6]