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The mutation spectrum in RECQL4 diseases | Researchclopedia

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The mutation spectrum in RECQL4 diseases

2008231 citationsJournal Articlebronze Open Access

Authors

H. Annika Siitonen · Institute for Molecular Medicine Finland

Jenni Sotkasiira · Institute for Molecular Medicine Finland

Martine Biervliet · University of Antwerp

Abdelmadjid Benmansour

Yline Capri · Inserm

Valérie Cormier‐Daire · Inserm

Barbara F. Crandall · University of California, Los Angeles

Topics & Keywords

DNA Repair Mechanisms Cancer-related Molecular Pathways RNA modifications and cancer

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: European Journal of Human Genetics

Volume 17, Issue 2, pp. 151-158

DOI: 10.1038/ejhg.2008.154

Field-Weighted Citation Impact: 3.86

Katariina Hannula‐Jouppi · University of Helsinki

Raoul C. M. Hennekam · Academic Medical Center

Denise Herzog · Université de Montréal

Kathelijn Keymolen · Universitair Ziekenhuis Brussel

Marita Lipsanen‐Nyman · Helsinki Children's Hospital

Peter Miny · University Children’s Hospital Basel

Sharon E. Plon · Baylor College of Medicine

Stefan Riedl · St Anna Children's Hospital

Ajoy Sarkar · Great Ormond Street Hospital

Fernando Regla Vargas · Universidade Federal do Estado do Rio de Janeiro

Alain Verloès · Hôpital Robert-Debré

Lisa L. Wang · Baylor College of Medicine

Helena Kääriäinen · University of Turku

Marjo Kestilä · Institute for Molecular Medicine Finland