Title : Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect - Macarov_2007_J.Intellect.Disabil.Res_51_329 |
Author(s) : Macarov M , Zeigler M , Newman JP , Strich D , Sury V , Tennenbaum A , Meiner V |
Ref : J Intellect Disabil Res , 51 :329 , 2007 |
PubMedID: 17391250 |
Title : Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease - Zschenker_2001_J.Lipid.Res_42_1033 |
Author(s) : Zschenker O , Jung N , Rethmeier J , Trautwein S , Hertel S , Zeigler M , Ameis D |
Ref : J Lipid Res , 42 :1033 , 2001 |
PubMedID: 11441129 |
Gene_locus related to this paper: human-LIPA |
Title : Hydrops fetalis in four siblings caused by galactosialidosis - |
Author(s) : Landau D , Meisner I , Zeigler M , Bargal R , Shinwell ES |
Ref : Isr J Med Sci , 31 :321 , 1995 |
PubMedID: 7759227 |
Gene_locus related to this paper: human-CTSA |