All papers authored by Julie Patat
Refreshing results…
2019
Christelle Arrondel,
Sophia Missoury,
Rozemarijn Snoek 
,
Julie Patat ,
Giulia Menara,
Bruno Collinet ,
Dominique Liger,
Dominique Durand ,
Olivier Gribouval ,
Olivia Boyer ,
Laurine Buscara,
Gaëlle Martin,
Eduardo Machuca,
Fabien Nevo,
Ewen Lescop
and 22 other authors
,
Julie Patat ,
Giulia Menara,
Bruno Collinet ,
Dominique Liger,
Dominique Durand ,
Olivier Gribouval ,
Olivia Boyer ,
Laurine Buscara,
Gaëlle Martin,
Eduardo Machuca,
Fabien Nevo,
Ewen Lescop
and 22 other authors
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
Download from www.nature.com
2018
Sara Gonçalves,
Julie Patat ,
Maria Clara Guida,
Noelle Lachaussée,
Christelle Arrondel,
Martin Helmstädter,
Olivia Boyer ,
Olivier Gribouval ,
Marie-Claire Gubler,
Geraldine Mollet ,
Marlène Rio,
Marina Charbit,
Christine Bole-Feysot,
Patrick Nitschke,
Tobias B. Huber
and 10 other authors
,
Maria Clara Guida,
Noelle Lachaussée,
Christelle Arrondel,
Martin Helmstädter,
Olivia Boyer ,
Olivier Gribouval ,
Marie-Claire Gubler,
Geraldine Mollet ,
Marlène Rio,
Marina Charbit,
Christine Bole-Feysot,
Patrick Nitschke,
Tobias B. Huber
and 10 other authors
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
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2017
Svjetlana Lovric,
Sara Goncalves,
Heon Yung Gee,
Babak Oskouian,
Honnappa Srinivas,
Won-Il Choi,
Shirlee Shril,
Shazia Ashraf,
Weizhen Tan,
Jia Rao,
Merlin Airik,
David Schapiro,
Daniela A. Braun,
Carolin E. Sadowski,
Eugen Widmeier
and 50 other authors
and 50 other authors
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
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