| Title : Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families - Egger_2014_Neurogenetics_15_117 |
| Author(s) : Egger G , Roetzer KM , Noor A , Lionel AC , Mahmood H , Schwarzbraun T , Boright O , Mikhailov A , Marshall CR , Windpassinger C , Petek E , Scherer SW , Kaschnitz W , Vincent JB |
| Ref : Neurogenetics , 15 :117 , 2014 |
| Abstract : |
| PubMedSearch : Egger_2014_Neurogenetics_15_117 |
| PubMedID: 24643514 |
| Title : Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures - Lionel_2013_Hum.Mol.Genet_22_2055 |
| Author(s) : Lionel AC , Vaags AK , Sato D , Gazzellone MJ , Mitchell EB , Chen HY , Costain G , Walker S , Egger G , Thiruvahindrapuram B , Merico D , Prasad A , Anagnostou E , Fombonne E , Zwaigenbaum L , Roberts W , Szatmari P , Fernandez BA , Georgieva L , Brzustowicz LM , Roetzer K , Kaschnitz W , Vincent JB , Windpassinger C , Marshall CR , Trifiletti RR , Kirmani S , Kirov G , Petek E , Hodge JC , Bassett AS , Scherer SW |
| Ref : Hum Mol Genet , 22 :2055 , 2013 |
| Abstract : |
| PubMedSearch : Lionel_2013_Hum.Mol.Genet_22_2055 |
| PubMedID: 23393157 |
| Title : Compound heterozygosity (G71R\/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease - Horl_2006_Atherosclerosis_187_101 |
| Author(s) : Horl G , Kroisel PM , Wagner E , Tiran B , Petek E , Steyrer E |
| Ref : Atherosclerosis , 187 :101 , 2006 |
| Abstract : |
| PubMedSearch : Horl_2006_Atherosclerosis_187_101 |
| PubMedID: 16216249 |