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List of works by Jennifer M Gass

A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.

scientific article published on 3 April 2017

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.

scientific article published on 20 July 2017

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

scientific article published on 04 January 2017

Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

scientific article published on 20 November 2017

Expanded phenotype in a patient with spastic paraplegia 7.

scientific article published on 24 August 2017

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

scientific article

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