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 15 matches for "park-soo-mi"
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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
Activating mutation in the arginine vasopressin receptor AVPR2 resulting in nephrogenic syndrome of inappropriate antidiuresis in a female Mohamed Ashif Majeed; Jennifer Hague; Andrew S Powlson; Julia Hale; Ruth Casey; Sue Oddy; Mark Gurnell; Soo-Mi Park; Helen Simps http://www.endocrine-abstracts.org/ea/0050/ea0050cc06.htm Published: 2017-10-20
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Audit of patients with multiple endocrine neoplasia type 1 in a tertiary referral centre Calum Goudie; Snigdha Reddy; Victoria Parker; Suzanne Curran; Pippa Corrie; Ashley Shaw; Neville Jamieson; Raaj Praseedom; Emman http://www.endocrine-abstracts.org/ea/0031/ea0031p165.htm Published: 2013-03-01
Phenotype–genotype analysis in a cohort of patients with multiple endocrine neoplasia type 1 identifies a novel nonsense mutation at codon 554 Snigdha Reddy; Calum Goudie; Victoria Parker; Soo-Mi Park; Becky Treacy; Helen Simpson http://www.endocrine-abstracts.org/ea/0031/ea0031p151.htm Published: 2013-03-01
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A comprehensive next generation sequencing-based strategy for genetic diagnosis in congenital hypothyroidism Nadia Schoenmakers; Hakan Cangul; Adeline K Nicholas; Erik Schoenmakers; Greta Lyons; Mehul Dattani; Catherine Peters; Shirley L http://www.endocrine-abstracts.org/ea/0033/ea0033oc2.9.htm Published: 2013-11-01
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Investigating the genetic architecture of gland-in-situ congenital hypothyroidism by comprehensive screening of eight known causative genes Adeline K Nicholas; Eva Goncalves Serra; Hakan Cangul; Saif Al-Yaarubi; Irfan Ullah; Abdelhadi Habeb; Asma Deeb; Catherine Peter http://www.endocrine-abstracts.org/ea/0038/ea0038oc5.5.htm Published: 2015-10-12
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Breast cancer in MEN1: coincidence or association? | SFEBES2019 Seong Keat Cheah; Chad Bisambar; Deborah Pitfield; Olivier Giger; Rogier ten Hoopen; Jose Ezequiel Martin; Graeme Clark; Soo-Mi https://www.endocrine-abstracts.org/ea/0065/ea0065p150 Published: 2019-11-06
Breast cancer in MEN1: coincidence or association? | SFEBES2019 Seong Keat Cheah; Chad Bisambar; Deborah Pitfield; Olivier Giger; Rogier ten Hoopen; Jose Ezequiel Martin; Graeme Clark; Soo-Mi https://www.endocrine-abstracts.org/ea/0065/ea0065p150.htm Published: 2019-11-06
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Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system | SFEBES2019 Adam Truelove; Akhilesh Mulay; Matina Prapa; Ruth Casey; Amanda Adler; Amaka Offiah; Kenneth Poole; Jamie Trotman; Namir Al Hass https://www.endocrine-abstracts.org/ea/0065/ea0065op4.2 Published: 2019-11-06
Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system | SFEBES2019 Adam Truelove; Akhilesh Mulay; Matina Prapa; Ruth Casey; Amanda Adler; Amaka Offiah; Kenneth Poole; Jamie Trotman; Namir Al Hass https://www.endocrine-abstracts.org/ea/0065/ea0065op4.2.htm Published: 2019-11-06
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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