Showing results 1 to 9 of 9
Title | Author(s) | Issue Date | Views | |
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Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location Journal:American Journal of Medical Genetics | 2005 | 66 | ||
2009 | 68 | |||
Molecular and mutation analysis of hereditary multiple exostoses Proceeding/Conference:British Cancer Research Meeting | 2002 | 129 | ||
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia Journal:American Journal of Human Genetics | 2009 | 70 | ||
2010 | 56 | |||
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome Journal:American Journal of Medical Genetics | 2005 | 65 | ||
2007 | 50 | |||
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome Journal:Journal of Medical Genetics | 2009 | 83 | ||
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 | 60 |