G&C - Klinische Genetica

  • Universiteitssingel50, UNS50

    6229 ER Maastricht

    Netherlands

Profiles

No photo of Yvonne Arens

Yvonne Arens

Person: Paid Staff - azM-employee, Unpaid Staff - Academic Staff AZM

20002019
No photo of Han Brunner

Han Brunner

Person: Paid Staff - azM-employee, Unpaid Staff - Academic Staff AZM

20122020
No photo of Rick Essers

Rick Essers

Person: Paid Staff - Academic Staff

Research Output

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children

Oosterloo, M., Bijlsma, E. K., de Die-Smulders, C. & Roos, R. A. C., Mar 2020, In : Brain Sciences. 10, 3, 12 p., 155.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fachal, L., Aschard, H., Beesley, J., Barnes, D. R., Allen, J., Kar, S., Pooley, K. A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemacon, A., Lush, M., Tyrer, J. P., Ghoussaini, M., Marjaneh, M. M., Jiang, X., Agata, S., Aittomaki, K., Rosario Alonso, M. & 36 others, Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Auber, B., Auer, P. L., Azzollini, J., Balmana, J., Barkardottir, R. B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bialkowska, K., Blanco, A. M., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., de Boer, M., Garcia, E. G., Blok, M., GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators, Jan 2020, In : Nature Genetics. 52, 1, p. 56–73 25 p.

Research output: Contribution to journal › Article › Academic › peer-review

Activities

  • 1 Talk or presentation

Afscheid van dezen en genen?

Joep Geraedts (Speaker)

26 Apr 2013

Activity: Talk or presentation (speaker at event) › Talk or presentation › Academic

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