E-LIB Suche - Ergebnisse für: Avinaash Maharaj

1

Elevated sphingosine-1-phosphate lyase leads to increased m..:

Williams, Jack L ; Smith, Chris ; Hall, Charlotte...
European Journal of Endocrinology. 188 (2023) 1 - p. 67-77 , 2023

2

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/..

3

RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequenc..:

Chan, Li ; Smith, Chris ; Read, Jordan...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A140-A141 , 2022

Link: https://doi.org/10.1210/..

4

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/..

5

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/..

6

Genetic Characterization of Short Stature Patients With Ove..:

Andrews, Afiya ; Maharaj, Avinaash ; Cottrell, Emily...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 11 - p. e4716-e4733 , 2021

Link: https://doi.org/10.1210/..

7

Missplicing due to a synonymous, T96= exonic substitution i..:

Maudhoo, Ashwini ; Maharaj, Avinaash ; Buonocore, Federica...
Endocrinology, Diabetes & Metabolism Case Reports. 2021 (2021) - p. , 2021

Link: https://doi.org/10.1530/..

8

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/..

9

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/..

10

A Sphingosine-1-Phosphate Lyase Mutation Associated With Co..:

Maharaj, Avinaash ; Theodorou, Demetria ; Banerjee, Indraneel (Indi)...
Frontiers in Pediatrics. 8 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

Isolated glucocorticoid deficiency: Genetic causes and anim..:

Maharaj, Avinaash ; Maudhoo, Ashwini ; Chan, Li F....
The Journal of Steroid Biochemistry and Molecular Biology. 189 (2019) - p. 73-80 , 2019

Link: https://doi.org/10.1016/..

12

Predicted Benign and Synonymous Variants in CYP11A1 Cause P..:

Maharaj, Avinaash ; Buonocore, Federica ; Meimaridou, Eirini...
Journal of the Endocrine Society. 3 (2018) 1 - p. 201-221 , 2018

Link: https://doi.org/10.1210/..

13

Characterization of HMGA2 variants expands the spectrum of ..:

Maharaj, Avinaash V. ; Cottrell, Emily ; Thanasupawat, Thatchawan...
JCI Insight. 9 (2024) 6 - p. , 2024

Link: https://doi.org/10.1172/..

14

Approach to the Patient With Suspected Silver-Russell Syndr..:

Kurup, Uttara ; Lim, David B N ; Palau, Helena...
The Journal of Clinical Endocrinology & Metabolism. , 2024

Link: https://doi.org/10.1210/..

15

Familial Glucocorticoid Deficiency: the changing landscape ..:

Maharaj, Avinaash V.
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..