Author: "Hannah Boon" / Journal: endocrine abstracts - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Hannah Boon"' showing total 4 results

Start Over Author "Hannah Boon" Journal endocrine abstracts

4 results on '"Hannah Boon"'

1. Effect of vitamin D analogue therapy in a patient with autosomal dominant hypocalcaemia type 2 (ADH2) due to GNA11 p.Arg60Leu mutation

Author: Emma Robinson, Catriona Farrell, Jacob George, David Goudie, Fadil Hannan, Rajesh Thakker, Treena Cranston, Paul Newey, Hannah Boon, and Joanne McLean
Subjects: medicine.medical_specialty, Endocrinology, GNA11, business.industry, Internal medicine, Mutation (genetic algorithm), Medicine, Autosomal dominant hypocalcaemia, business, Vitamin D Analogue
Published: 2019
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2. Clinical evaluation of a multiple-gene sequencing panel for hypoparathyroidism

Author: Treena Cranston, Rajesh Thakker, Victoria Stokes, Caroline M Gorvin, Fadil Hannan, and Hannah Boon
Subjects: Hypoparathyroidism, business.industry, Medicine, Computational biology, business, medicine.disease, Clinical evaluation, DNA sequencing
Published: 2017
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3. Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome

Author: Fiona Ryan, Hannah Boon, Rajesh Thakker, Fadil Hannan, Debbie Shears, and Treena Cranston
Subjects: Uniparental Isodisomy, business.industry, Ectodermal dystrophy, Immunology, Medicine, Autoimmune polyendocrinopathy, APECED Syndrome, business
Published: 2017
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4. Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a P.Leu380Phe cell division cycle 23 (CDC73) mutation

Author: Babak Torabi Sagvand, Kate E Lines, Hannah Boon, Mark Stevenson, Shafaq Khairi, Treena Cranston, Xun Zhang, Anne Klibanski, Rajesh Thakker, Lisa B. Nachtigall, and Laura E. Dichtel
Subjects: Phenocopy, Cell division cycle, Genetics, Mutation (genetic algorithm), Cancer research, medicine, MEN1, Biology, Multiple endocrine neoplasia, medicine.disease
Published: 2017
Full Text: View/download PDF

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