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Showing page 1 of results 1 - 10 of about 26 matches for "lyons-greta"

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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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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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Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism
Catherine Peters; Adeline K. Nicholas; Greta Lyons; Shirley Langham; Eva G. Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazz
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.7.htm
Published: 2016-11-14

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Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins
Carla Moran; Maura Agostini; Anne McGowan; Erik Schoenmakers; Louise Fairall; Greta Lyons; Odelia Rajanayagam; Laura Watson; Ama
http://www.endocrine-abstracts.org/ea/0044/ea0044p241.htm
Published: 2016-10-14

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MicroTSHoma: an emerging clinical entity with ‘atypical’ biochemical features and often ‘normal’ imaging characteristics on MRI
Olympia Koulouri; Carla Moran; Sarah Heard; Greta Lyons; Rob Smith; Franklin Aigbirhio; Nagui Antoun; Heok Cheow; David Halsall;
http://www.endocrine-abstracts.org/ea/0044/ea0044p151.htm
Published: 2016-10-14

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Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism
Catherine Peters; Adeline K Nicholas; Greta Lyons; Shirley Langham; Eva Serra; Erik Schoenmakers; Marina Muzza; Laura Fugazzola;
http://www.endocrine-abstracts.org/ea/0044/ea0044oc3.1.htm
Published: 2016-10-14

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Modelling neuroendocrine systems
Gareth Leng; Duncan MacGregor
http://www.endocrine-abstracts.org/ea/0031/ea0031apw1.1.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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