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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

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Year: 2013
Type: article
Study design: Observational Study
Source: Human Genetics
DOI: 10.1007/s00439-013-1295-2
Authors: J. C. Czeschik, C. Voigt, Y. Alanay, B. Albrecht, S. Avci, D. FitzPatrick, D. R. Goudie, U. Hehr, A. J. Hoogeboom, H. Kayserili, P. O. Simsek-Kiper, L. Klein-Hitpass, A. Kuechler, V. López-González, M. Martin, S. Rahmann, B. Schweiger, M. Splitt, B. Wollnik, H. -J. Lüdecke, M. Zeschnigk, D. Wieczorek
Institutions: Essen University Hospital, University of Duisburg-Essen, Acıbadem University, Istanbul University, Western General Hospital, Institute of Genetics and Cancer, MRC Human Genetics Unit, Ninewells Hospital, University of Regensburg, Erasmus MC, Hospital Universitario Virgen de la Arrixaca, TU Dortmund University, Centre for Life, University of Cologne
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W2167817111
FWCI: 5.556
Cites: 24
Cited by: 84
Related to: 10
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