Research output per year
Research output per year
Fingerprint
Fingerprints are formed from scientific publications and create an index of weighted keyword concepts for each individual researcher.
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Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Vollstedt, E. J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., & 31 others, Feb 2023, In: Movement Disorders. 38, 2, p. 286-303Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure) -
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip
Dembic, M., van Brakel Andersen, L., Larsen, M. J., Mechlenburg, I., Søballe, K. & Hertz, J. M., Mar 2023, In: Molecular Genetics and Genomics. 298, 2, p. 329-342Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile -
A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus
Hinrichs, G. R., Baltzer, S., Pallien, T., Svenningsen, P., Dalgaard, E. B., Hertz, J. M., Bistrup, C., Jensen, B. L. & Klussmann, E., Oct 2022, In: Kidney International Reports. 7, 10, p. 2289-2294Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile5 Downloads (Pure) -
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
Hertz, J. M., Svenningsen, P., Dimke, H., Engelund, M. B., Nørgaard, H., Hansen, A., Marcussen, N., Thiesson, H. C., Bergmann, C. & Larsen, M. J., Nov 2022, In: Pediatric Nephrology. 37, 11, p. 2657-2665Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile11 Downloads (Pure) -
Guidelines for Genetic Testing and Management of Alport Syndrome
Savige, J., Lipska-Zietkiewicz, B. S., Watson, E., Hertz, J. M., Deltas, C., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., & 24 others, Jan 2022, In: Clinical Journal of American Society of Nephrology. . 17, 1, p. 143-154Research output: Contribution to journal › Journal article › Research › peer-review
Press/Media
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Ny blodprøve kan teste fosteret for sygdomme fra uge 10
08/04/2021
1 Media contribution
Press/Media: Press / Media
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Gravide Katrine har prøvet helt ny test: Særlig blodprøve tjekker barnet for sygdomme
06/04/2021
1 Media contribution
Press/Media: Press / Media