Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies

por Wai Kwong, Ruth Ming, Maharaj, Avinaash Vickram, Metherell, Louise, Prasad, Rathi
Publicado 2021

Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report

por Ali, Naseer, Maharaj, Avinaash Vickram, Buonocore, Federica, Achermann, John C., Metherell, Louise A.
Publicado 2022

In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP

por Smith, Chris, Maharaj, Avinaash Vickram, Qamar, Younus, Read, Jordan, Williams, Jack, Chan, Li, Marimuthu, Vidhya, Metherell, Louise
Publicado 2021