Zeynep Tümer
Clinical Professor
- 2004
- Published
An excess of chromosome 1 breakpoints in male infertility
Bache, I., Assche, E. V., Cingöz, S., Bugge, M., Tümer, Z. A., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G. & 39 others, , 2004, In: European Journal of Human Genetics. Vol. 12, p. 993-1000Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome
Boonen, S. E., Stahl, D., Kreiborg, Sven, Rosenberg, T., Kalscheuer, V., Larsen, Lars Allan, Tommerup, Niels, Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 132A, p. 324-328Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)
Hertz, J. M., Sivertsen, B., Silahtaroglu, Asli, Bugge, M., Kalscheuer, V. M., Weber, A., Wirth, J., Ropers, H. H., Tommerup, Niels & Tümer, Asuman Zeynep, 2004, In: Journal of Medical Genetics. Vol. 41, p. E25Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family
Henriksen, A. M., Tümer, Asuman Zeynep, Tommerup, Niels, Tranebjærg, Lisbeth & Larsen, Lars Allan, 2004, In: Genetic Testing. 8, 4, p. 404-6 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome
Midro, A. T., Panasiuk, B., Tümer, Asuman Zeynep, Stankiewicz, P., Silahtaroglu, Asli, Lupski, J. R., Zemanova, Z., Stasiewicz-Jarocka, B., Hubert, E., Tarasow, E., Famulski, W., Zadrozna-Tolwinska, B., Wasiliewska, E., Kirchhoff, M., Kalscheuer, V. M., Michalova, K. & Tommerup, Niels, 2004, In: American Journal of Human Genetics. Vol. 124, p. 179-191Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Menkes disease
Tümer, Asuman Zeynep & Horn, N., 2004, Neurocutaneous Syndromes. Cambridge University Press, p. 222-233Research output: Chapter in Book/Report/Conference proceeding › Report chapter › Research
- Published
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients
Tümer, Asuman Zeynep, Harboe, T. L., Blennow, E., Kalscheuer, V. M., Tommerup, Niels & Brøndum-Nielsen, K., 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. 130A, 4, p. 340-344 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Sequencing and mapping of the porcine CCS gene
Silahtaroglu, Asli, Jensen, L. R., Harboe, T. L., Horn, P., Bendixen, C., Tommerup, Niels & Tümer, Asuman Zeynep, 2004, In: Animal Genetics. Vol. 35, p. 353-354Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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2602
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
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1860
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
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1136
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Published