List of works - Julie Patat - Paulina

List of works by Julie Patat

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

scientific article published on 16 May 2018

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

Paulina is supported by:

About Paulina

Help