Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| Author(s) : Eisenberger T , Slim R , Mansour A , Nauck M , Nurnberg G , Nurnberg P , Decker C , Dafinger C , Ebermann I , Bergmann C , Bolz H |
| Ref : Orphanet J Rare Dis , 7 :59 , 2012 |
| Abstract : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| ESTHER : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedSearch : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| PubMedID: 22938382 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
| Ref : Neurology , 73 :1926 , 2009 |
| PubMedID: 19949040 |