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• Obler D[au](5)
• A protein truncating BRCA1 allele with a low penetrance of breast cancer.A protein truncating BRCA1 allele with a low penetrance of breast cancer.
• Sofaer JA[au](44)
• Spectrum, and clinical and functional implications of UNC13D mutations in familial haemoph...Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
• Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comp...Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

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