Czeschik, J. C. 
; Voigt, C. ; Alanay, Y. ; Albrecht, B. ; Avci, S. ; FitzPatrick, D. ; Goudie, D. R. ; Hehr, U. ; Hoogeboom, A. J. ; Kayserili, H. ; Simsek-Kiper, P. O. ; Klein-Hitpass, L. ; Kuechler, A. ; López-González, V. ; Martin, M. ; Rahmann, S. ; Schweiger, B. ; Splitt, M. ; Wollnik, B. ; Lüdecke, H. -J. ; Zeschnigk, M. ; Wieczorek, D.
; Voigt, C. ; Alanay, Y. ; Albrecht, B. ; Avci, S. ; FitzPatrick, D. ; Goudie, D. R. ; Hehr, U. ; Hoogeboom, A. J. ; Kayserili, H. ; Simsek-Kiper, P. O. ; Klein-Hitpass, L. ; Kuechler, A. ; López-González, V. ; Martin, M. ; Rahmann, S. ; Schweiger, B. ; Splitt, M. ; Wollnik, B. ; Lüdecke, H. -J. ; Zeschnigk, M. ; Wieczorek, D. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Article
Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D. , Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M. , Rahmann, S., Schweiger, B. , Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M. and Wieczorek, D.
(2013)
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Human Genetics 132 (8), pp. 885-898.
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| Item type | Article | ||||
| Journal or Publication Title | Human Genetics | ||||
| Publisher | SPRINGER | ||||
| Place of Publication | NEW YORK | ||||
| Volume | 132 | ||||
| Number of Issue or Book Chapter | 8 | ||||
| Page Range | pp. 885-898 | ||||
| Date | 2013 | ||||
| Date of publication | 19 Dec 2024 08:38 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | TREACHER-COLLINS-SYNDROME; ACROFACIAL DYSOSTOSIS; MANDIBULOFACIAL DYSOSTOSIS; HAPLOINSUFFICIENCY; COMPONENT; ATRESIA; Acrofacial dysostosis; Preaxial limb defect; Thumb hypoplasia; Radial hypoplasia; SF3B4; EFTUD2; Exome sequencing | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 62394 |
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