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The Journal of Clinical Endocrinology and Metabolism|December 11, 2019
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2Caroline M Gorvin, Victoria J Stokes, Hannah Boon, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 12, 2020
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin ExpressionKreepa G Kooblall, Hannah Boon, Treena Cranston, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 29, 2016
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)Sian E Piret, Caroline M Gorvin, Alistair T Pagnamenta, et al.Journal of Medical Genetics|March 9, 2022
UK recommendations for SDHA germline genetic testing and surveillance in clinical practiceHelen Hanson, Miranda Durkie, Fiona Lalloo, et al.Human Molecular Genetics|March 2, 2010
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidismMichael R Bowl, Samantha M Mirczuk, Irina V Grigorieva, et al.The Journal of Pathology|November 21, 2012
Use of multivariate analysis to suggest a new molecular classification of colorectal cancerEnric Domingo, Rajarajan Ramamoorthy, Dahmane Oukrif, et al.The Journal of Clinical Endocrinology and Metabolism|June 7, 2014
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasiaLucia Gagliardi, Andreas W Schreiber, Christopher N Hahn, et al.Nature Genetics|December 11, 2012
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3M Andrew Nesbit, Fadil M Hannan, Sarah A Howles, et al.American Journal of Medical Genetics. Part A|June 25, 2004
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trialTheresa Marteau, Victoria Senior, Steve E Humphries, et al.The Journal of Clinical Endocrinology and Metabolism|April 9, 2014
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)Angela Rogers, M Andrew Nesbit, Fadil M Hannan, et al.Pageof 4