Suchergebnisse - "Eggermann, Thomas"

PubPharm (14)

1

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes : pitfalls in the diagnostic workup

enthalten in: Pediatric nephrology (Berlin, Germany) | 2014

von Kummer, S. | Venghaus, A. | Schlune, A. | +3

2

2p21 Deletions in hypotonia-cystinuria syndrome

enthalten in: European journal of medical genetics | 2012

von Eggermann, T. | Spengler, S. | Venghaus, A. | +4

3

Cystinuria : an inborn cause of urolithiasis

enthalten in: Orphanet journal of rare diseases | 2012

von Eggermann, T. | Venghaus, A. | Zerres, K.

4

Clinical utility gene card for : Cystinuria

enthalten in: European journal of human genetics : EJHG | 2012

von Eggermann, T. | Zerres, K. | Nunes, V. | +7

5

Novel human pathological mutations. Gene symbol : SLC3A1. Disease: Cystinuria

enthalten in: Human genetics | 2009

von Eggermann, T.

6

Novel human pathological mutations. Gene symbol : SLC3A1. Disease: Cystinuria

enthalten in: Human genetics | 2009

von Eggermann, T.

7

Novel human pathological mutations. Gene symbol : SLC7A9. Disease: Cystinuria

enthalten in: Human genetics | 2009

von Eggermann, T.

8

Gene symbol : SLC7A9. Disease: Cystinuria. Accession #Hm0545

enthalten in: Human genetics | 2006

von Brauers, E. | Eggermann, T.

9

Gene symbol : SLC3A1. Disease: Cystinuria. Accession #Hm0546

enthalten in: Human genetics | 2006

von Brauers, E. | Eggermann, T.

10

Gene symbol : SLC3A1. Disease: Cystinuria. Accession #Hm0547

enthalten in: Human genetics | 2006

von Brauers, E. | Eggermann, T.