المؤلفون: Basel-Vanagaite, L., Pasmanik-Chor, M., Lurie, R., Yeheskel, A., Kjaer, K.W.

المصدر: Molecular Syndromology ; volume 1, issue 5, page 223-230 ; ISSN 1661-8769 1661-8777

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1159/000327156Test
https://www.karger.com/Article/Pdf/327156Test

المؤلفون: Lehmann, K., Seemann, Petra, Sılan, Fatma, Goecke, Tim O., Irgang, S., Kjaer, K.W., Mundlos, Stefan

المساهمون: DÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

العلاقة: American Journal Of Human Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1086/519697Test; https://hdl.handle.net/20.500.12684/2417Test; 81; 388; 396

الإتاحة: https://doi.org/20.500.12684/2417Test
https://doi.org/10.1086/519697Test
https://hdl.handle.net/20.500.12684/2417Test

المؤلفون: Lohan, S., Spielmann, M., Doelken, S.C., Flöttmann, R., Muhammad, F., Baig, S.M., Wajid, M., Hülsemann, W., Habenicht, R., Kjaer, K.W., Patil, S.J., Girisha, K.M., Abarca‐Barriga, H.H., Mundlos, S., Klopocki, E.

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: Clinical Genetics ; volume 86, issue 4, page 318-325 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12352Test

المؤلفون: Sanggaard, K.M., Rendtorff, Nanna Dahl, Kjær, K.W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K.O., Lage, K., Tranebjærg, Lisbeth

المصدر: Sanggaard , K M , Rendtorff , N D , Kjær , K W , Eiberg , H R L , Johnsen , T , Gimsing , S , Dyrmose , J , Nielsen , K O , Lage , K & Tranebjærg , L 2007 , ' Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses ' , European Journal of Human Genetics , vol. 15 , no. 11 , pp. 1121-1131 .

الإتاحة: https://curis.ku.dk/portal/da/publications/branchiootorenal-syndrome-detection-of-eya1-and-six1-mutations-in-five-out-of-six-danish-families-by-combining-linkage-mlpa-and-sequencing-analysesTest(4ed36370-20ec-11dd-bc23-000ea68e967b).html

المؤلفون: Kier-Swiatecka, E., Kock, M., Marker, P., Eiberg, Hans Rudolf Lytchoff, Kjær, K.W.

المصدر: Kier-Swiatecka , E , Kock , M , Marker , P , Eiberg , H R L & Kjær , K W 2007 , ' The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype ' , American Journal of Medical Genetics. Part A , vol. 143A , no. 8 , pp. 891-894 .

الإتاحة: https://curis.ku.dk/portal/da/publications/the-adulteec-spectrum-an-r280c-mutation-with-a-borderline-phenotypeTest(31711c50-20ec-11dd-bc23-000ea68e967b).html

المؤلفون: Jakobsen, L.P., Ullmann, R., Kjær, K.W., Knudsen, M.A., Tommerup, Niels, Eiberg, Hans Rudolf Lytchoff

المصدر: Jakobsen , L P , Ullmann , R , Kjær , K W , Knudsen , M A , Tommerup , N & Eiberg , H R L 2007 , ' Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family ' , American Journal of Medical Genetics. Part A , vol. 143A , no. 22 , pp. 2716-2721 .

الإتاحة: https://curis.ku.dk/portal/da/publications/suggestive-linkage-to-a-neighboring-region-of-irf6-in-a-cleft-lip-and-palate-multiplex-familyTest(2b9d9060-20ec-11dd-bc23-000ea68e967b).html

المؤلفون: Hansen, Lars, Yao, W.L., Eiberg, Hans Rudolf Lytchoff, Kjær, K.W., Baggesen, K., Hejtmancik, J.F., Rosenberg, T.

المصدر: Hansen , L , Yao , W L , Eiberg , H R L , Kjær , K W , Baggesen , K , Hejtmancik , J F & Rosenberg , T 2007 , ' Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA ' , Investigative Ophthalmology & Visual Science , vol. 48 , no. 9 , pp. 3937-3944 .

الإتاحة: https://curis.ku.dk/portal/da/publications/genetic-heterogeneity-in-microcorneacataract-five-novel-mutations-in-cryaa-crygd-and-gjaTest(22629680-20ec-11dd-bc23-000ea68e967b).html

المؤلفون: Rinne, T.K., Spadoni, E., Kjaer, K.W., Danesino, C., Larizza, D., Kock, M. de, Huoponen, K., Savontaus, M.L., Aaltonen, M., Duijf, P.H., Brunner, H.G., Penttinen, M., Bokhoven, J.H.L.M. van

المصدر: European Journal of Human Genetics, 14, 8, pp. 904-10

مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease, UMCN 5.1: Genetic defects of metabolism

العلاقة: http://hdl.handle.net/2066/51135Test

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201640Test
http://hdl.handle.net/2066/51135Test

المؤلفون: Kjaer, K.W., Hansen, L., Eiberg, H., Utkus, Algirdas, Skovgaard, L.T., Leiccht, P., Opitz, J.M., Tommerup, N.

المصدر: American journal of medical genetics. Part A, 2005, vol. 138A, no. 4, p. 328-339 ; ISSN 1552-4825

العلاقة: http://vu.lvb.lt/VU:ELABAPDB3598264&prefLang=en_USTest

الإتاحة: https://doi.org/10.1002/ajmg.a.30971Test
http://vu.lvb.lt/VU:ELABAPDB3598264&prefLang=en_USTest

المؤلفون: Kock, M., Nolting, D., Kjær, K.W., Fischer-Hansen, B., Kjær, I.

المصدر: Kock , M , Nolting , D , Kjær , K W , Fischer-Hansen , B & Kjær , I 2005 , ' Immunohistochemical expression of p63 in human prenatal tooth primordia ' , Acta Odontologica Scandinavica , no. 63 , pp. 253-257 .

الإتاحة: https://curis.ku.dk/portal/da/publications/immunohistochemical-expression-of-p63-in-human-prenatal-tooth-primordiaTest(4391e080-74c3-11db-bee9-02004c4f4f50).html