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| 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 : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| ESTHER : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedSearch : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedID: 23621129 |
| 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 : Israeli_2011_Am.J.Hum.Genet_88_482 |
| ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedID: 21439540 |
| Gene_locus related to this paper: human-LIPN |
| Title : A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families - Nahum_2009_Arch.Dermatol.Res_301_391 |
| Author(s) : Nahum S , Pasternack SM , Pforr J , Indelman M , Wollnik B , Bergman R , Nothen MM , Konig A , Khamaysi Z , Betz RC , Sprecher E |
| Ref : Arch Dermatol Res , 301 :391 , 2009 |
| Abstract : Nahum_2009_Arch.Dermatol.Res_301_391 |
| ESTHER : Nahum_2009_Arch.Dermatol.Res_301_391 |
| PubMedSearch : Nahum_2009_Arch.Dermatol.Res_301_391 |
| PubMedID: 18820939 |
| Gene_locus related to this paper: human-LIPH |