Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
Ref : Brain , 131 :747 , 2008 |
Abstract : Mihaylova_2008_Brain_131_747 |
ESTHER : Mihaylova_2008_Brain_131_747 |
PubMedSearch : Mihaylova_2008_Brain_131_747 |
PubMedID: 18180250 |
Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596 |
Author(s) : Morar B , Gresham D , Angelicheva D , Tournev I , Gooding R , Guergueltcheva V , Schmidt C , Abicht A , Lochmuller H , Tordai A , Kalmar L , Nagy M , Karcagi V , Jeanpierre M , Herczegfalvi A , Beeson D , Venkataraman V , Warwick Carter K , Reeve J , de Pablo R , Kucinskas V , Kalaydjieva L |
Ref : American Journal of Human Genetics , 75 :596 , 2004 |
Abstract : Morar_2004_Am.J.Hum.Genet_75_596 |
ESTHER : Morar_2004_Am.J.Hum.Genet_75_596 |
PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596 |
PubMedID: 15322984 |