Publications by authors named "Emma Sach"

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Emma Mm Burkitt Wright, Emma Sach, Saba Sharif, Oliver Quarrell, Thomas Carroll

J Med Genet· September 2013

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Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
Shay Ben-Shachar, Shlomi Constantini, Hen Hallevi, Emma K Sach, Meena Upadhyaya

Eur J Hum Genet· May 2013

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