Rozemarijn Snoek

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 2

Top Topics

Mitochondrial Dna

Top Venues

Nature communications

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Laura R Claus, Rozemarijn Snoek, Nine V A M Knoers, Albertien M Van Eerde
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups. American journal of medical genetics. Part C, Seminars in medical genetics 190 (3) (2022)
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, Daniela A Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau Frachon, Albertien M van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Geraldine Mollet
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nature communications 10 (1) (2019)