E-LIB Suche - Ergebnisse für: Prasad, Rathi

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

Link: https://doi.org/10.1093/..

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/..

3

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/..

4

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/..

5

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/..

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

Haploinsufficiency of NKX2-1 in Brain-Lung-Thyroid Syndrome..:

Prasad, Rathi ; Nicholas, Adeline K. ; Schoenmakers, Nadia.
Hormone Research in Paediatrics. 92 (2019) 5 - p. 340-344 , 2019

Link: https://doi.org/10.1159/..

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

Hartsfield syndrome associated with a novel heterozygous mi..:

Prasad, Rathi ; Brewer, Carole ; Burren, Christine P.
American Journal of Medical Genetics Part A. 170 (2016) 8 - p. 2222-2225 , 2016

Link: https://doi.org/10.1002/..

14

Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With F..:

Prasad, Rathi ; Chan, Li F. ; Hughes, Claire R....
The Journal of Clinical Endocrinology & Metabolism. 99 (2014) 8 - p. E1556-E1563 , 2014

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

15

Lack of galectin‐1 results in defects in myoblast fusion an..:

Georgiadis, Vasilios ; Stewart, Helen J.S. ; Pollard, Hilary J....
Developmental Dynamics. 236 (2007) 4 - p. 1014-1024 , 2007

Link: https://doi.org/10.1002/..