Zeynep Tümer
Clinical Professor
1 - 4 out of 4Page size: 10
- 2010
- Published
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
Sehested, L. T., Møller, R. S., Bache, Iben, Andersen, N. B., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 1 Dec 2010, In: American Journal of Medical Genetics. Part A. 152A, 12, p. 3115-9 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Haploinsufficiency of TAB2 causes congenital heart defects in humans
Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L., Van Loo, P., Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Asuman Zeynep, van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K. & Larsen, Lars Allan, 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Menkes disease
Tümer, Asuman Zeynep & Møller, L. B., 2010, In: European Journal of Human Genetics. 18, 5, p. 511-8 7 p.Research output: Contribution to journal › Review › Research
- Published
Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis
László, A., Endreffy, E., Tümer, Asuman Zeynep, Horn, N. & Szabó, J., 2010, In: Ideggyógyászati szemle. 63, 1-2, p. 48-51 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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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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1894
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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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1155
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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