Fuchs-Telem D

References (4)

Title : Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population - Israeli_2013_Clin.Exp.Dermatol_38_911
Author(s) : Israeli S , Goldberg I , Fuchs-Telem D , Bergman R , Indelman M , Bitterman-Deutsch O , Harel A , Mashiach Y , Sarig O , Sprecher E
Ref : Clinical & Experimental Dermatologyatol , 38 :911 , 2013
Abstract :
PubMedSearch : Israeli_2013_Clin.Exp.Dermatol_38_911
PubMedID: 23621129

Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204
Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H
Ref : American Journal of Medicine Genet A , 161A :2204 , 2013
Abstract :
PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204
PubMedID: 23918762
Gene_locus related to this paper: human-SERAC1

Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482
Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E
Ref : American Journal of Human Genetics , 88 :482 , 2011
Abstract :
PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482
PubMedID: 21439540
Gene_locus related to this paper: human-LIPN

Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390
Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E
Ref : Br J Dermatol , 164 :1390 , 2011
Abstract :
PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390
PubMedID: 21332462
Gene_locus related to this paper: human-ABHD5