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Title : Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation - Nur_2015_Eur.J.Med.Genet_58_238 |
Author(s) : Nur BG , Gencpinar P , Yuzbasioglu A , Emre SD , Mihci E |
Ref : Eur Journal of Medical Genetics , 58 :238 , 2015 |
Abstract : Nur_2015_Eur.J.Med.Genet_58_238 |
ESTHER : Nur_2015_Eur.J.Med.Genet_58_238 |
PubMedSearch : Nur_2015_Eur.J.Med.Genet_58_238 |
PubMedID: 25682902 |
Gene_locus related to this paper: human-ABHD5 |
Title : Chanarin-dorfman syndrome with multi-system involvement in two siblings - Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
Author(s) : Arslansoyu Camlar S , Gencpinar P , Makay B , Yuzbasioglu A , Arslan N , Emre Dokmeci S , Anal O , Kose G |
Ref : Turk J Haematol , 30 :72 , 2013 |
Abstract : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
ESTHER : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
PubMedSearch : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
PubMedID: 24385758 |
Gene_locus related to this paper: human-ABHD5 |
Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141 |
Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A |
Ref : Eur Journal of Medical Genetics , 53 :141 , 2010 |
Abstract : Emre_2010_Eur.J.Med.Genet_53_141 |
ESTHER : Emre_2010_Eur.J.Med.Genet_53_141 |
PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141 |
PubMedID: 20307695 |