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A mutation screen in patients with Kabuki syndrome

2011129 citationsJournal Article

Authors

Yun Li · University of Cologne

Nina Bögershausen · University of Cologne

Yasemin Alanay · Hacettepe University

Pelin Özlem Şimşek‐Kiper · Hacettepe University

Nadine Plume · University of Cologne

Katharina Keupp · University of Cologne

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Oral and gingival health research

Publication Details

Published in: Human Genetics

Volume 130, Issue 6, pp. 715-724

DOI: 10.1007/s00439-011-1004-y

Field-Weighted Citation Impact: 8.20

A mutation screen in patients with Kabuki syndrome | Researchclopedia

University of Cologne

Barbara Pawlik · University of Cologne

Martin Rachwalski · University of Cologne

Esther Milz · University of Cologne

Michaela Thoenes · University of Cologne

Beate Albrecht · Essen University Hospital

Eva‐Christina Prott · Essen University Hospital

Margret Lehmkühler · Essen University Hospital

Stephanie Demuth · Praxis für Humangenetik

Gülen Eda Ütine · Hacettepe University

Koray Boduroğlu · Hacettepe University

Katja Frankenbusch · University of Cologne

Guntram Borck · Universität Ulm

Gabriele Gillessen‐Kaesbach · University of Lübeck

Gökhan Yigit · University of Cologne

Dagmar Wieczorek · Institut für Medizinische Informatik, Biometrie und Epidemiologie

Bernd Wollnik · Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases