Showing results 3 to 9 of 9
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Title | Author(s) | Issue Date | |
---|---|---|---|
Molecular and mutation analysis of hereditary multiple exostoses Proceeding/Conference:British Cancer Research Meeting | 2002 | ||
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia Journal:American Journal of Human Genetics | 2009 | ||
2010 | |||
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome Journal:American Journal of Medical Genetics | 2005 | ||
2007 | |||
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome Journal:Journal of Medical Genetics | 2009 | ||
Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review Journal:American Journal of Medical Genetics, Part A | 2006 |