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Metherell, Louise A.
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1

SAT292 Adrenal Insufficiency Associated With Biallelic Muta..:

Smith, Chris ; Jackson, Adam ; Al-Salihi, Ahmed...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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2

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, U..:

Patjamontri, Supitcha ; Lucas-Herald, Angela K. ; McMillan, Martin...
Hormone Research in Paediatrics.  , 2023
Link: https://doi.org/10.1159/..
 
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3

Adrenal Dysfunction in Mitochondrial Diseases:

Corkery-Hayward, Madeleine ; Metherell, Louise A.
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1126 , 2023
Link: https://doi.org/10.3390/..
 
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4

Characterization of dominant-negative growth hormone recept..:

Andrews, Afiya ; Cottrell, Emily ; Maharaj, Avinaash...
European Journal of Endocrinology.  188 (2023)  4 - p. 353-365 , 2023
Link: https://doi.org/10.1093/..
 
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5

Ichthyosis linked to sphingosine 1-phosphate lyase insuffic..:

Smith, Christopher J. ; Williams, Jack L. ; Hall, Charlotte...
Journal of Lipid Research.  64 (2023)  4 - p. 100351 , 2023
Link: https://doi.org/10.1016/..
 
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6

Insights From Long-term Follow-up of a Girl With Adrenal In..:

Maharaj, Avinaash ; Güran, Tülay ; Buonocore, Federica...
Journal of the Endocrine Society.  6 (2022)  5 - p. , 2022
Link: https://doi.org/10.1210/..
 
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7

A retrospective analysis of endocrine disease in sphingosin..:

Maharaj, Avinaash ; Kwong, Ruth ; Williams, Jack...
Endocrine Connections.  11 (2022)  8 - p. , 2022
Link: https://doi.org/10.1530/..
 
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8

Can Digenic, Tri-Allelic Inheritance of Variants in STAR an..:

Ali, Naseer ; Maharaj, Avinaash Vickram ; Buonocore, Federica..
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Genetic Analysis of Pediatric Primary Adrenal Insufficiency..:

Buonocore, Federica ; Maharaj, Avinaash ; Qamar, Younus...
Journal of the Endocrine Society.  5 (2021)  8 - p. , 2021
Link: https://doi.org/10.1210/..
 
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10

CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic M..:

Zhou, Junhua ; Boulkroun, Sheerazed ; Cabrera, Claudia P...
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A65-A66 , 2021
Link: https://doi.org/10.1210/..
 
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11

In Vitro Splicing Assay Proves the Pathogenicity of Introni..:

Smith, Chris ; Maharaj, Avinaash Vickram ; Qamar, Younus...
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A85-A86 , 2021
Link: https://doi.org/10.1210/..
 
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12

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakis..:

Farooqi, Nadia ; Metherell, Louise A. ; Schrauwen, Isabelle...
Genes.  12 (2021)  12 - p. 1915 , 2021
Link: https://doi.org/10.3390/..
 
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13

Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldost..:

Azizan, Elena A B ; Zhou, Junhua ; Cabrera, Claudia P...
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A72-A72 , 2021
Link: https://doi.org/10.1210/..
 
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14

Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLI..:

Wai Kwong, Ruth Ming ; Maharaj, Avinaash Vickram ; Metherell, Louise.
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A662-A662 , 2021
Link: https://doi.org/10.1210/..
 
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15

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A N..:

Cottrell, Emily ; Maharaj, Avinaash ; Williams, Jack...
The Journal of Clinical Endocrinology & Metabolism.  107 (2021)  1 - p. e401-e416 , 2021
Link: https://doi.org/10.1210/..
 
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