المؤلفون: Kwasny, Dorota, Dimaki, Maria, Andersen, Karsten Brandt, Zulfiqar, Azeem, Tümer, Z., Svendsen, Winnie Edith

المصدر: Kwasny , D , Dimaki , M , Andersen , K B , Zulfiqar , A , Tümer , Z & Svendsen , W E 2014 , Nanoscaled biological gated field effect transistors for cytogenetic analysis . in Proceedings of the 9th IEEE International Conference on Nano/Micro Engineered and Molecular Systems . IEEE , pp. 130-134 , 9th IEEE International Conference on Nano/Micro Engineered and Molecular Systems , Honolulu , United States , 13/04/2014 . https://doi.org/10.1109/NEMS.2014.6908775Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://orbit.dtu.dk/en/publications/2ffa75b3-e039-4d22-a161-39b78d63ad8aTest; urn:ISBN:978-1-4799-4726-3

الإتاحة: https://doi.org/10.1109/NEMS.2014.6908775Test
https://orbit.dtu.dk/en/publications/2ffa75b3-e039-4d22-a161-39b78d63ad8aTest

المؤلفون: Møller, R S, Jensen, L R, Maas, S M, Filmus, J, Capurro, M, Hansen, Claus, Marcelis, C L M, Ravn, K, Andrieux, J, Mathieu, M, Kirchhoff, M, Rødningen, O K, de Leeuw, N, Yntema, H G, Froyen, G, Vandewalle, J, Ballon, K, Klopocki, E, Joss, S, Tolmie, J, Knegt, A C, Lund, A M, Hjalgrim, H, Kuss, A W, Tommerup, N, Ullmann, R, de Brouwer, A P M, Strømme, P, Kjaergaard, S, Tümer, Z, Kleefstra, T

المصدر: Møller , R S , Jensen , L R , Maas , S M , Filmus , J , Capurro , M , Hansen , C , Marcelis , C L M , Ravn , K , Andrieux , J , Mathieu , M , Kirchhoff , M , Rødningen , O K , de Leeuw , N , Yntema , H G , Froyen , G , Vandewalle , J , Ballon , K , Klopocki , E , Joss , S , Tolmie , J , Knegt , A C , Lund , A M , Hjalgrim ....

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Animals, Blepharoptosis, Body Height, Child, Chromosome Duplication, Cleft Palate, Female, Fingers, Genetic Diseases, X-Linked, Humans, Intellectual Disability, Karyotyping, Male, Mice, Transgenic, Microcephaly, Syndrome

الإتاحة: https://doi.org/10.1007/s00439-013-1403-3Test
https://curis.ku.dk/portal/da/publications/xlinked-congenital-ptosis-and-associated-intellectual-disability-short-stature-microcephaly-cleft-palate-digital-and-genital-abnormalities-define-novel-xq25q26-duplication-syndromeTest(fa67de5c-3b54-44db-ae23-7c7bdeb5d75c).html
http://download.springer.com/static/pdf/998/art%253A10.1007%252Fs00439-013-1403-3.pdf?auth66=1406711234_710d6259d6ba2d1d9b752d059840b3f2&ext=.pdfTest

المؤلفون: Boyle, M.I., Jespersgaard, C., Brøndum‐Nielsen, K., Bisgaard, A.‐M., Tümer, Z.

المساهمون: A.P. Møller and wife Chastine Mc-Kinney Møllers Foundation (Fonden til Lægevidenskabens Fremme).

المصدر: Clinical Genetics ; volume 88, issue 1, page 1-12 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12499Test

المؤلفون: Svendsen, Winnie Edith, Dimaki, Maria, Clausen, Casper Hyttel, Lange, Jacob Moresco, Shah, Pranjul Jaykumar, Jensen, Linda Boye, Tümer, Z., Tommerup, Niels

المصدر: Svendsen , W E , Dimaki , M , Clausen , C H , Lange , J M , Shah , P J , Jensen , L B , Tümer , Z & Tommerup , N 2007 , ' C-TAS: A lab-on-a-chip system for the analysis of chromosomal translocations ' , DFS & KIF , 01/01/2007 .

الإتاحة: https://orbit.dtu.dk/en/publications/325cd4ae-1c8f-42a5-a9cf-abaca7d83096Test

المؤلفون: Sánchez Delgado M, Camprubí C, Tümer Z, MARTINEZ, F., Milà M, Monk D

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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مصطلحات موضوعية: intellectual disability, KCNK9, Imprinting, autism spectrum disorder, methylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2f7c5f4add50a4273e7603b9bd4306f3Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1868Test

المؤلفون: Jacobsen, Iben Søgaard, Tümer, Z, Tommerup, N, Børglum, Anders, Horsbøl, H, Mors, Ole

المصدر: Jacobsen , I S , Tümer , Z , Tommerup , N , Børglum , A , Horsbøl , H & Mors , O 2005 , ' T(4;12) translocation an a patient with bipolar affective disorder ' , T(4;12) translocation an a patient with bipolar affective disorder , 17/12/2010 .

الإتاحة: https://pure.au.dk/portal/da/publications/t412-translocation-an-a-patient-with-bipolar-affective-disorderTest(2c97ec50-ba68-11da-bee9-02004c4f4f50).html

المؤلفون: Rendtorff, Nanna Dahl, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, Ec, Nickelsen, Laa, Tümer, Z, Fagerheim, T, Wetke, Randi, Tranebjaerg, L

المصدر: Rendtorff , N D , Schrijver , I , Lodahl , M , Rodriguez-Paris , J , Johnsen , T , Hansén , E , Nickelsen , L , Tümer , Z , Fagerheim , T , Wetke , R & Tranebjaerg , L 2013 , ' SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations ' , Clinical Genetics , vol. 84 , no. 4 , pp. 388-391 . https://doi.org/10.1111/cge.12074Test

الإتاحة: https://doi.org/10.1111/cge.12074Test
https://curis.ku.dk/portal/da/publications/slc26a4-mutation-frequency-and-spectrum-in109-danish-pendred-syndromedfnb4-probands-and-a-report-of-nine-novel-mutationsTest(25be16a4-0f2b-4b62-a792-23c0c492c18f).html

المؤلفون: Roos, L, Fang, M, Dali, C, Jensen, H, Christoffersen, N, Wu, B, Zhang, J, Xu, R, Harris, P, Xu, X, Grønskov, K, Tümer, Z

المصدر: Roos , L , Fang , M , Dali , C , Jensen , H , Christoffersen , N , Wu , B , Zhang , J , Xu , R , Harris , P , Xu , X , Grønskov , K & Tümer , Z 2013 , ' A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia ' , Clinical Genetics . https://doi.org/10.1111/cge.12277Test

الإتاحة: https://doi.org/10.1111/cge.12277Test
https://curis.ku.dk/portal/da/publications/a-homozygous-mutation-in-a-consanguineous-family-consolidates-the-role-of-aldh1a3-in-autosomal-recessive-microphthalmiaTest(cfcc67e7-92e1-4b35-a57f-8342548d0769).html

المؤلفون: Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.

المصدر: Human Genetics ; volume 133, issue 5, page 625-638 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-013-1403-3Test

المؤلفون: Boonen, S.E., Tümer, Z., Tommerup, Niels, Stahl, D., Rosenberg, T., Kreiborg, S., Brøndum-Nielsen, Karen

المصدر: Boonen , S E , Tümer , Z , Tommerup , N , Stahl , D , Rosenberg , T , Kreiborg , S & Brøndum-Nielsen , K 2002 , Gorlin syndrome in a patient with deletion of the distal part of chromosome 9q and fine mapping of the break points with fluorescence in situ hybridization . in Ikke angivet . European Human Genetics Conference 2002, Strasbourg , pp. 201-201 , Gorlin syndrome in a patient with deletion of the distal part of chromosome 9q and fine mapping of the break points with fluorescence in situ hybridization , 29/11/2010 ....

الإتاحة: https://curis.ku.dk/portal/da/publications/gorlin-syndrome-in-a-patient-with-deletion-of-the-distal-part-of-chromosome-9q-and-fine-mapping-of-the-break-points-with-fluorescence-in-situ-hybridizationTest(a7115c70-74bf-11db-bee9-02004c4f4f50).html