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Current Opinion in Pediatrics|May 6, 2011
Genetic causes of congenital hypothyroidism due to dyshormonogenesisHelmut Grasberger, Samuel Refetoff
Best Practice & Research. Clinical Endocrinology & Metabolism|June 27, 2017
Resistance to thyrotropinHelmut Grasberger, Samuel Refetoff
The Journal of Biological Chemistry|May 3, 2006
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalentHelmut Grasberger, Samuel Refetoff
The Journal of Clinical Endocrinology and Metabolism|April 1, 2011
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesisPia Hermanns, Helmut Grasberger, Samuel Refetoff, et al.
Thyroid : Official Journal of the American Thyroid Association|August 2, 2005
Resistance to thyroid hormone in a patient with thyroid dysgenesisHelmut Grasberger, Usanee Ringkananont, Michael Croxson, et al.
Molecular Endocrinology (Baltimore, Md.)|March 22, 2007
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factorHelmut Grasberger, Xavier De Deken, Francoise Miot, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|September 28, 2017
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid SyndromePia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, et al.
Thyroid : Official Journal of the American Thyroid Association|February 5, 2009
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infantBrenda Kohn, Helmut Grasberger, Leslie L Lam, et al.
Molecular Endocrinology (Baltimore, Md.)|February 19, 2005
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activityHelmut Grasberger, Usanee Ringkananont, Paule Lefrancois, et al.
The Journal of Clinical Endocrinology and Metabolism|April 26, 2007
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesisHelmut Grasberger, Jacqueline Van Sande, Ahmad Hag-Dahood Mahameed, et al.
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