Author Hüning, Irina
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2014 | Journal Article |
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al. (2014)
Molecular genetics & genomic medicine, 2(2) pp. 176-185. DOI: https://doi.org/10.1002/mgg3.60
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2016 | Journal Article
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Balestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M. J.; Verstreken, P. & Cardon, A. et al. (2016)
Neurology, 87(1) pp. 77-85. DOI: https://doi.org/10.1212/WNL.0000000000002807
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2019 | Journal Article |
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Recke, A.; Massalme, E. G.; Jappe, U.; Steinmüller-Magin, L.; Schmidt, J. ; Hellenbroich, Y. & Hüning, I. et al. (2019)
Clinical and Translational Allergy, 9(1) art. 9. DOI: https://doi.org/10.1186/s13601-019-0247-x
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2022 | Journal Article | Research Paper |
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al. (2022)
Human Mutation, 43(10) pp. 1454-1471. DOI: https://doi.org/10.1002/humu.24430
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2023 | Journal Article
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Baalmann, N.; Spielmann, M.; Gillessen- Kaesbach, G.; Hanker, B.; Schmidt, J.; Lill, C. M. & Hellenbroich, Y. et al. (2023)
European Journal of Medical Genetics, art. 104774. DOI: https://doi.org/10.1016/j.ejmg.2023.104774
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