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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

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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

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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

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3 hit(s)
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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.htm
Published: 2019-11-06

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3 hit(s)
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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

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3 hit(s)
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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.htm
Published: 2019-11-06

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