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Katherine R. Neas

Children's Hospital at Westmead

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Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association

2006 Clinical Dysmorphology
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Three patients with terminal deletions within the subtelomeric region of chromosome 9q

2005 American Journal of Medical Genetics Part A
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Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group†‡

2005 Human Mutation
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A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero.

2003 Clinical Dysmorphology
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