Title : Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype - Scalais_2016_Am.J.Med.Genet.A_170_1799 |
Author(s) : Scalais E , Connerotte AC , Despontin K , Biver A , Ceuterick-de Groote C , Alders M , Kolivras A , Hachem JP , de Meirleir L |
Ref : American Journal of Medicine Genet A , 170 :1799 , 2016 |
Abstract : |
PubMedSearch : Scalais_2016_Am.J.Med.Genet.A_170_1799 |
PubMedID: 27127007 |
Title : Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6 - Postema_2011_Neth.Heart.J_19_290 |
Author(s) : Postema PG , Christiaans I , Hofman N , Alders M , Koopmann TT , Bezzina CR , Loh P , Zeppenfeld K , Volders PG , Wilde AA |
Ref : Neth Heart J , 19 :290 , 2011 |
Abstract : |
PubMedSearch : Postema_2011_Neth.Heart.J_19_290 |
PubMedID: 21512816 |
Gene_locus related to this paper: human-DPP6 |
Title : Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. - Alders_2009_Am.J.Hum.Genet_84_468 |
Author(s) : Alders M , Koopmann TT , Christiaans I , Postema PG , Beekman L , Tanck MW , Zeppenfeld K , Loh P , Koch KT , Demolombe S , Mannens MM , Bezzina CR , Wilde AA |
Ref : American Journal of Human Genetics , 84 :468 , 2009 |
Abstract : |
PubMedSearch : Alders_2009_Am.J.Hum.Genet_84_468 |
PubMedID: 19285295 |
Gene_locus related to this paper: human-DPP6 |