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Authors: Luis Castaño
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Journal Article
Neonatal Diabetes Caused by Mutations in Sulfonylurea Receptor 1: Interplay between Expression and Mg-Nucleotide Gating Defects of ATP-Sensitive Potassium Channels
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Qing Zhou and others
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 12, 1 December 2010, Pages E473–E478, https://doi.org/10.1210/jc.2010-1231
Published: 01 December 2010
Journal Article
Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
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Eduardo Fernandez-Rebollo and others
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 2, 1 February 2010, Pages 765–771, https://doi.org/10.1210/jc.2009-1581
Published: 01 February 2010
Journal Article
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy
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Guiomar Pérez de Nanclares and others
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 6, 1 June 2007, Pages 2370–2373, https://doi.org/10.1210/jc.2006-2287
Published: 01 June 2007
Journal Article
Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress
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Christian M. Moya and others
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 5, 1 May 2006, Pages 1832–1841, https://doi.org/10.1210/jc.2005-1497
Published: 01 May 2006
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