Showing results 1 to 12 of 12
Title | Author(s) | Issue Date | |
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2005 | |||
2005 | |||
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia Journal:American Journal of Medical Genetics | 2002 | ||
2008 | |||
2004 | |||
2002 | |||
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [5] Journal:Clinical Genetics | 2007 | ||
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1 Journal:Journal of Investigative Dermatology | 2005 | ||
2009 | |||
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type Journal:American Journal of Medical Genetics | 2004 | ||
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism Journal:American Journal of Medical Genetics | 2003 | ||
2004 |