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Showing page 1 of results 1 - 10 of about 44 matches for "metherell-louise"

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Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations
Sumana Chatterjee; Stephen Rose; Talat Mushtaq; Peter Clayton; Svetlana Ten; Amrit Bhangoo; Uma Kumbattae; Renuka Dias; Lucy Sha
http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.6.htm
Published: 2017-10-30

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Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology
Costa Alexandra Rodrigues Da; Eirini Meimaridou; Rathi Prasad; Louise A. Metherell; J. Paul Chapple; Helen L. Storr
http://www.endocrine-abstracts.org/ea/0051/ea0051oc5.3.htm
Published: 2017-10-30

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Antioxidant pathway targeting as a therapeutic approach in adrenocortical carcinoma
Vasileios Chortis; Angela E. Taylor; Craig L. Doig; Eirini Meimaridou; Mark Walsh; Carl Jenkinson; Giovanny Rodriguez-Blanco; Al
http://www.endocrine-abstracts.org/ea/0050/ea0050oc1.3.htm
Published: 2017-10-20

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Familial Glucocorticoid Deficiency: Masked Diagnosis by Hydrocortisone Life-Saving Treatment
Federico Baronio; Angelica Marsigli; Ilaria Bettocchi; Davide Tassinari; Laura Mazzanti; Louise Metherell; Antonio Balsamo
http://abstracts.eurospe.org/hrp/0082/hrp0082p3-d1-628.htm
Published: 2014-08-28

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Clinical Phenotype of Patients with MCM4 Mutation Suggests Pubertal Delay in Males in Addition to Adrenal Failure, Absent Adrenarche, and Short Stature in Boys and Girls
Claire Hughes; Adrian Clark; Louise Metherell; Colm Costigan
http://abstracts.eurospe.org/hrp/0082/hrp0082fc1.2.htm
Published: 2014-08-28

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RNA Sequencing Reveals the Pathways Perturbed by Redox Imbalance in Nicotinamide Nucleotide Transhydrogenase Null Mice
Eirini Meimaridou; Michelle Goldsworthy; Vasileios Chortis; Paul Foster; Wiebke Arlt; Roger Cox; Louise Metherell
http://abstracts.eurospe.org/hrp/0084/hrp0084fc-lb-1.htm
Published: 2015-08-26

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Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1
Li Chan; Angela Huebner; Helen Spoudeas; Tim Cheetham; Louise Metherell
http://abstracts.eurospe.org/hrp/0084/hrp0084fc1.5.htm
Published: 2015-08-26

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Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration
Sasha Howard; Leonardo Guasti; Alessandra Mancini; Alessia David; Helen Storr; Louise Metherell; Michael Sternberg; Claudia Cabr
http://abstracts.eurospe.org/hrp/0084/hrp0084ha1.htm
Published: 2015-08-26

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Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI)
Sumana Chatterjee; Lucy Shapiro; Kate M Davies; Martin O Savage; Louise A Metherell; Helen L Storr
http://www.endocrine-abstracts.org/ea/0045/ea0045oc6.6.htm
Published: 2016-11-14

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MRAP2 permits the functional expression of the melanocortin-2-receptor: a new member of a new family of melanocortin receptor accessory proteins
Li Chan; Louise Metherell; Maurice Elphick; J Paul Chapple; Adrian Clark
http://www.endocrine-abstracts.org/ea/0015/ea0015oc6.htm
Published: 2008-04-01

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