MOL CELL PROBE
Publications
- 2015
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Köhler, C., Heyer, C., Hoffjan, S., Stemmler, S., Lücke, T., Thiels, C., Kohlschütter, A., Löbel, U., Horvath, R., Kleinle, S., Benet-Pagès, A. & Abicht, A., 29.10.2015, In: MOL CELL PROBE. 29, 5, p. 319-322Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. & Borck, G., 10.2015, In: MOL CELL PROBE. 29, 5, p. 330-334Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections
Kathiravel, U., Keyser, B., Hoffjan, S., Kötting, J., Müller, M., Sivalingam, S., Bonin, M., Arslan-Kirchner, M., von Kodolitsch, Y., Binner, P., Scheffold, T., Stuhrmann, M. & Waldmüller, S., 04.2013, In: MOL CELL PROBE. 27, 2, p. 103-108 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
Culture-based PCR analysis of plaque samples of Japanese school children to assess the presence of six common cariogenic bacteria and its association with caries risk.
Rodis, O., Matsumura, S., Kariya, N., Okazaki, Y., Ogata, S. & Reißmann, D., 2009, In: MOL CELL PROBE. 23, 6, p. 259-263 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review