ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology
Showing page 1 of results 1 - 10 of about 34 matches for "schoenmakers-nadia"
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Syndromes of decreased sensitivity to thyroid hormone Nadia Schoenmakers http://www.endocrine-abstracts.org/ea/0049/ea0049s26.2.htm Published: 2017-05-03
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Genetic disorders of thyroid physiology and development Nadia Schoenmakers http://www.endocrine-abstracts.org/ea/0030/ea0030s4.htm Published: 2012-11-01
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A novel IGSF1 mutation in a large Irish kindred highlights the need for family screening in the IGSF1 deficiency syndrome Edna Roche; Anne McGowan; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta http://www.endocrine-abstracts.org/ea/0051/ea0051p060.htm Published: 2017-10-30
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Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus Walree Eva van; Soo-Mi Park; Elena Bochukova; Adeline K Nicholas; Greta Lyons; V Krishna Chatterjee; Nadia Schoenmakers http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.8.htm Published: 2017-10-30
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Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity Walree Eva van; A Emile J Hendriks; Carla Moran; Adeline K Nicholas; Greta Lyons; Anne McGowan; David Halsall; Sue Oddy; V Krish http://www.endocrine-abstracts.org/ea/0051/ea0051oc2.1.htm Published: 2017-10-30
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Male IGSF1 deficient humans and mice exhibit somatotroph neurosecretory hyperfunction Sjoerd D Joustra; Ferdinand Roelfsema; Erik Endert; Trotsenburg ASPaul van; Eric Fliers; Harald J Schneider; Robert P Kosilek; H http://www.endocrine-abstracts.org/ea/0050/ea0050p269.htm Published: 2017-10-20
A novel IGSF1 mutation in a large Irish kindred highlights the need for systematic familial endocrine screening in the IGSF1 deficiency syndrome Anne McGowan; Edna Roche; Olympia Koulouri; Marc-Olivier Turgeon; Adeline K Nicholas; Emmeline Heffernan; Ranna El-Khairi; Greta http://www.endocrine-abstracts.org/ea/0050/ea0050oc2.3.htm Published: 2017-10-20
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Compensated hyperthyrotropinaemia due to partial loss-of-function mutation in TSH receptor gene Anne McGowan; Carla Moran; Mark Vanderpump; Mehul Dattani; Krishna Chatterjee; Nadia Schoenmakers http://www.endocrine-abstracts.org/ea/0048/ea0048o3.htm Published: 2017-03-16
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Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family Caroline Ponmani; Abigail Atterbury; Senthil Seniappan; Nadia Schoenmakers; Adeline K Nicholas; Krishna Chatterjee; Mehul Dattan http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d2-274.htm Published: 2014-08-28
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Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism Marco Bonomi; Paolo Duminuco; Alessandro Salvatoni; Mario Maggi; Fabio Buzi; Alba Pilotta; Giorgio Radetti; Paolo Beck-Peccoz; I http://abstracts.eurospe.org/hrp/0082/hrp0082p1-d1-239.htm Published: 2014-08-28
Event series: --All Event Series-- European Congress of Endocrinology British Endocrine Societies (pre 2005) Society for Endocrinology Annual Meeting Society for Endocrinology BES BSPED Annual Meeting Hammersmith Hospital ESE Basic Endocrinology Course World Congress on Clinical Trials in Diabetes Androgens Biannual Meeting UKINETS Annual Conference Theranostics World Congress Endocrine Update Obesity Update Nuclear Receptors Belgian Endocrine Society Meeting EYES Meeting
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