Research Output per year
Research Output per year
Research output
- 5 Journal articles
Search results
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2023
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., Greiten, B., Lohmann, K., Trinh, J. & Hüning, I., 07.2023, In: European Journal of Medical Genetics. 66, 7, p. 104774 104774.Research output: Journal Articles › Journal articles › Research › peer-review
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2021
ANKRD11 variants: KBG syndrome and beyond
Parenti, I., Mallozzi, M. B., Hüning, I., Gervasini, C., Kuechler, A., Agolini, E., Albrecht, B., Baquero-Montoya, C., Bohring, A., Bramswig, N. C., Busche, A., Dalski, A., Guo, Y., Hanker, B., Hellenbroich, Y., Horn, D., Innes, A. M., Leoni, C., Li, Y. R. & Lynch, S. A. & 20 others, , 08.2021, In: Clinical Genetics. 100, 2, p. 187-200 14 p.Research output: Journal Articles › Journal articles › Research › peer-review
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Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
Hanker, B., Gillessen-Kaesbach, G., Hüning, I., Lüdecke, H. J. & Wieczorek, D., 2021, In: European Journal of Human Genetics.Research output: Journal Articles › Journal articles › Research › peer-review
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2020
Genotype-phenotype correlation on 45 individuals with West syndrome
Krey, I., Krois-Neudenberger, J., Hentschel, J., Syrbe, S., Polster, T., Hanker, B., Fiedler, B., Kurlemann, G. & Lemke, J. R., 03.2020, In: European Journal of Paediatric Neurology. 25, p. 134-138 5 p.Research output: Journal Articles › Journal articles › Research › peer-review
1 Citation (Scopus) -
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
Zech, M., Brunet, T., Škorvánek, M., Blaschek, A., Vill, K., Hanker, B., Hüning, I., Haň, V., Došekova, P., Gdovinová, Z., Alhaddad, B., Berutti, R., Strom, T. M., Růžička, E., Kamsteeg, E. J., van der Smagt, J. J., Wagner, M., Jech, R. & Winkelmann, J., 08.2020, In: Parkinsonism and Related Disorders. 77, p. 70-75 6 p.Research output: Journal Articles › Journal articles › Research › peer-review