Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
- DOI
- 10.1186/s13023-019-1119-0
- Published
- 2019-07-16
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-019-1119-0,
title = {Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders},
author = {Tobias Geis and Tanja Rödl and Haluk Topaloğlu and Burcu Balci-Hayta and Sophie Hinreiner and Wolfgang Müller-Felber and Benedikt Schoser and Yasmin Mehraein and Angela Hübner and Birgit Zirn and Markus Hoopmann and Heiko Reutter and David Mowat and Gerhard Schuierer and Ulrike Schara and Ute Hehr and Heike Kölbel},
year = {2019},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-019-1119-0},
url = {https://doi.org/10.1186/s13023-019-1119-0}
}RIS
TY - JOUR TI - Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders AU - Tobias Geis AU - Tanja Rödl AU - Haluk Topaloğlu AU - Burcu Balci-Hayta AU - Sophie Hinreiner AU - Wolfgang Müller-Felber AU - Benedikt Schoser AU - Yasmin Mehraein AU - Angela Hübner AU - Birgit Zirn AU - Markus Hoopmann AU - Heiko Reutter AU - David Mowat AU - Gerhard Schuierer AU - Ulrike Schara AU - Ute Hehr AU - Heike Kölbel PY - 2019 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-019-1119-0 UR - https://doi.org/10.1186/s13023-019-1119-0 ER -
APA
Geis, T., Rödl, T., Topaloğlu, H., Balci-Hayta, B., Hinreiner, S., Müller-Felber, W., Schoser, B., Mehraein, Y., Hübner, A., Zirn, B., Hoopmann, M., Reutter, H., Mowat, D., Schuierer, G., Schara, U., Hehr, U., & Kölbel, H. (2019). Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-019-1119-0
Source records
- crossref · retrieved 2026-09-25T19:15:11.593Z