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| Title : Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis - Malki_2020_Genet.Med__ |
| Author(s) : Malki L , Sarig O , Cesarato N , Mohamad J , Canter T , Assaf S , Pavlovsky M , Vodo D , Anis Y , Bihari O , Malovitski K , Gat A , Thiele H , White BEP , Samuelov L , Nanda A , Paller AS , Betz RC , Sprecher E |
| Ref : Genet Med , : , 2020 |
| Abstract : Malki_2020_Genet.Med__ |
| ESTHER : Malki_2020_Genet.Med__ |
| PubMedSearch : Malki_2020_Genet.Med__ |
| PubMedID: 32336749 |
| 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 |
| Title : In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth - Pasternack_2009_J.Invest.Dermatol_129_2772 |
| Author(s) : Pasternack SM , von Kugelgen I , Muller M , Oji V , Traupe H , Sprecher E , Nothen MM , Janecke AR , Betz RC |
| Ref : Journal of Investigative Dermatology , 129 :2772 , 2009 |
| Abstract : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| ESTHER : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedSearch : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedID: 19536142 |
| Gene_locus related to this paper: human-LIPH |