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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Genomics England Research Consortium, The CORGI Consortium & WGS500 Consortium, 5 May 2022, In: American journal of human genetics. 109, 5, p. 953-960 9 p.

Research output: Contribution to journalResearch articleContributedpeer-review

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

Pistorius, S., Klink, B., Pablik, J., Rump, A., Aust, D., Garzarolli, M. & Schröck, E. & 1 others, Schackert, H. K., 10 May 2016, In: Hereditary Cancer in Clinical Practice. 14, 1, 11.

Research output: Contribution to journalResearch articleContributedpeer-review

Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: A comprehensive analysis of 3,671 families

Steinke, V., Holzapfel, S., Loeffler, M., Holinski-Feder, E., Morak, M., Schackert, H. K. & Görgens, H. & 6 others, Pox, C., Royer-Pokora, B., Von Knebel-Doeberitz, M., Büttner, R., Propping, P. & Engel, C., 1 Jul 2014, In: International journal of cancer. 135, 1, p. 69-77 9 p.

Research output: Contribution to journalResearch articleContributedpeer-review

Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefèvre syndrome

Schackert, H. K., Agha-Hosseini, F., Görgens, H., Jatzwauk, M., von Kannen, S., Noack, B. & Eckelt, U. & 3 others, Hoffmann, P., Shabestari, S. B. & Mehdipour, P., Jul 2014, In: International Journal of Dermatology. 53, 7, p. 885-887 3 p.

Research output: Contribution to journalCase reportContributedpeer-review

Analysis of Stathmin gene variation in patients with panic disorder and agoraphobia

Bräuer, D., Görgens, H., Einsle, F., Zimmermann, K., Noack, B., von Kannen, S. & Hoyer, J. & 7 others, Strobel, A., Weidner, K., Jatzwauk, M., Ziegler, A., Hemmelmann, C., Köllner, V. & Schackert, H. K., Feb 2013, In: Psychiatric Genetics. 23, 1, p. 43-44 2 p.

Research output: Contribution to journalLetterContributedpeer-review