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Showing page 1 of results 1 - 10 of about 77 matches for "metherell-lou"

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4 hit(s)
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Slide 1

http://www.bone-abstracts.org/ba/0005/eposters/ba0005p22_eposter.pdf
Published:

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8 hit(s)
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Investigation of the role of MRAP in the functional expression of the melanocortin 2 receptor
Sadani Cooray; Lou Metherell; Mike Cheetham; Adrian Clark
http://www.endocrine-abstracts.org/ea/0014/ea0014oc9.1.htm
Published: 2007-04-28

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6 hit(s)
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An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings
Edward Andrews; Carl Taylor; Lou Metherell; Frederica Buonocore; John Achermann; Avinaash Maharaj
http://www.endocrine-abstracts.org/ea/0051/ea0051p010.htm
Published: 2017-10-30

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6 hit(s)
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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Eliana Barbagaleta; Ignacio Bergada; H
http://abstracts.eurospe.org/hrp/0086/hrp0086fc15.2.htm
Published: 2016-08-19

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6 hit(s)
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Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI)
Lucy Shapiro; Martin Savage; Kate Davies; Lou Metherell; Helen Storr
http://abstracts.eurospe.org/hrp/0086/hrp0086fc8.2.htm
Published: 2016-08-19

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6 hit(s)
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Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency
Li Chan; Tatiana Novoselova; Shoshana Rath; Karen Carpenter; H Atkinson; Jan Dickinson; Nick Pachter; G Price; Cathy Choong; Lou
http://abstracts.eurospe.org/hrp/0082/hrp0082lbp-d3-1002.htm
Published: 2014-08-28

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6 hit(s)
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A Novel GHR Mutation, c.439+1g>a; in a Family with Laron Syndrome
Mona Attia; Atef Abeer; Ibrahim Makarem; Malcolm Donaldson; Lou Metherell; Sameh Tawfik; Wafaa Dowedar
http://abstracts.eurospe.org/hrp/0082/hrp0082p3-d1-811.htm
Published: 2014-08-28

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6 hit(s)
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Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity
Evelien Pease-Gevers; David Neumann; Jurgen Klammt; Shayne Andrew; Julia Kowalczyk; Lou Metherell; Mehul Dattani; Vivian Hwa
http://abstracts.eurospe.org/hrp/0084/hrp0084fc4.1.htm
Published: 2015-08-26

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6 hit(s)
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Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant
Avinaash Maharaj; Federica Buonocore; Eirini Meimaridou; Tim Cheetham; Caroline Brain; Ewan Gray; Jenifer Suntharalingham; Nicco
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.6.htm
Published: 2016-11-14

66% match
6 hit(s)
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Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Veldhoven Paul van; Federica Buonocore; Eliana Barbagelata; Ignacio Bergada;
http://www.endocrine-abstracts.org/ea/0045/ea0045oc5.3.htm
Published: 2016-11-14

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