| Title : 2p21 Deletions in hypotonia-cystinuria syndrome - Eggermann_2012_Eur.J.Med.Genet_55_561 |
| Author(s) : Eggermann T , Spengler S , Venghaus A , Denecke B , Zerres K , Baudis M , Ensenauer R |
| Ref : Eur Journal of Medical Genetics , 55 :561 , 2012 |
| Abstract : Eggermann_2012_Eur.J.Med.Genet_55_561 |
| ESTHER : Eggermann_2012_Eur.J.Med.Genet_55_561 |
| PubMedSearch : Eggermann_2012_Eur.J.Med.Genet_55_561 |
| PubMedID: 22766003 |
| Title : Cystinuria: an inborn cause of urolithiasis - Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
| Author(s) : Eggermann T , Venghaus A , Zerres K |
| Ref : Orphanet J Rare Dis , 7 :19 , 2012 |
| Abstract : Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
| ESTHER : Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
| PubMedSearch : Eggermann_2012_Orphanet.J.Rare.Dis_7_19 |
| PubMedID: 22480232 |
| Title : No evidence for isolated imprinting mutations in the PEG1\/MEST locus in Silver-Russell patients - Schoherr_2008_Eur.J.Med.Genet_51_322 |
| Author(s) : Schoherr N , Jager S , Ranke MB , Wollmann HA , Binder G , Eggermann T |
| Ref : Eur Journal of Medical Genetics , 51 :322 , 2008 |
| Abstract : Schoherr_2008_Eur.J.Med.Genet_51_322 |
| ESTHER : Schoherr_2008_Eur.J.Med.Genet_51_322 |
| PubMedSearch : Schoherr_2008_Eur.J.Med.Genet_51_322 |
| PubMedID: 18585117 |