المؤلفون: Asif, M, Kaygusuz, E, Shinawi, M, Nickelsen, A, Hsieh, T-C, Wagle, P, Budde, BS, Hochscherf, J, Abdullah, U, Höning, S, Nienberg, C, Lindenblatt, D, Noegel, AA, Altmüller, J, Thiele, H, Motameny, S, Fleischer, N, Segal, I, Pais, L, Tinschert, S, Samra, NN, Savatt, JM, Rudy, NL, De Luca, C, Italian Undiagnosed Diseases Network, Paola Fortugno, White, SM, Krawitz, P, Hurst, ACE, Niefind, K, Jose, J, Brancati, F, Nürnberg, P, Hussain, MS

العلاقة: pii: S2666-2477(22)00027-6; Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T. -C., Wagle, P., Budde, B. S., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A. A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L. ,. Hussain, M. S. (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Adv, 3 (3), pp.100111-. https://doi.org/10.1016/j.xhgg.2022.100111Test.; http://hdl.handle.net/11343/310662Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100111Test
http://hdl.handle.net/11343/310662Test

المؤلفون: Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hsieh, T.C., Wagle, P., Budde, B., Hochscherf, J., Abdullah, U., Höning, S., Nienberg, C., Lindenblatt, D., Noegel, A.A., Altmüller, J., Thiele, H., Motameny, S., Fleischer, N., Segal, I., Pais, L., Tinschert, S., Samra, N.G., Savatt, J.M., Rudy, N.L., De Luca, C., Fortugno, P., White, S.M., Krawitz, P., Hurst, A.C.E., Niefind, K., Jose, J., Brancati, F., Nürnberg, P., Hussain, M.S.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/21584/1/21584oa.pdfTest; http://edoc.mdc-berlin.de/21584/2/21584suppl.zipTest; De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Asif, M. and Kaygusuz, E. and Shinawi, M. and Nickelsen, A. and Hsieh, T.C. and Wagle, P. and Budde, B. and Hochscherf, J. and Abdullah, U. and Höning, S. and Nienberg, C. and Lindenblatt, D. and Noegel, A.A. and Altmüller, J. and Thiele, H. and Motameny, S. and Fleischer, N. and Segal, I. and Pais, L. and Tinschert, S. and Samra, N.G. and Savatt, J.M. and Rudy, N.L. and De Luca, C. and Fortugno, P. and White, S.M. and Krawitz, P. and Hurst, A.C.E. and Niefind, K. and Jose, J. and Brancati, F. and Nürnberg, P. and Hussain, M.S. Human Genetics and Genomics Advances 3 (3): 100111. 14 July 2022

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100111Test
http://edoc.mdc-berlin.de/21584Test/
https://edoc.mdc-berlin.de/21584Test/
http://edoc.mdc-berlin.de/21584/1/21584oa.pdfTest
http://edoc.mdc-berlin.de/21584/2/21584suppl.zipTest

المؤلفون: Yigit, G., Sheffer, R., Daana, M., Li, Y., Kaygusuz, E., Mor-Shakad, H., Altmüller, J., Nürnberg, P., Douiev, L., Kaulfuss, S., Burfeind, P., Wollnik, B., Brockmann, K.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/20511/1/20511oa.pdfTest; http://edoc.mdc-berlin.de/20511/2/20511suppl.pdfTest; Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state. Yigit, G. and Sheffer, R. and Daana, M. and Li, Y. and Kaygusuz, E. and Mor-Shakad, H. and Altmüller, J. and Nürnberg, P. and Douiev, L. and Kaulfuss, S. and Burfeind, P. and Wollnik, B. and Brockmann, K. Journal of Medical Genetics 59 (6): 549-553. 20 May 2022

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107769Test
http://edoc.mdc-berlin.de/20511Test/
https://edoc.mdc-berlin.de/20511Test/
http://edoc.mdc-berlin.de/20511/1/20511oa.pdfTest
http://edoc.mdc-berlin.de/20511/2/20511suppl.pdfTest

المؤلفون: Makhdoom, E.U.H., Waseem, S.S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Höhne, W., Tinschert, S., Saadi, S.M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmüller, J., Thiele, H., Höning, S., Baig, S.M., Nürnberg, P., Hussain, M.S.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/20505/1/20505oa.pdfTest; http://edoc.mdc-berlin.de/20505/6/20505suppl.zipTest; Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ. Makhdoom, E.U.H. and Waseem, S.S. and Iqbal, M. and Abdullah, U. and Hussain, G. and Asif, M. and Budde, B. and Höhne, W. and Tinschert, S. and Saadi, S.M. and Yousaf, H. and Ali, Z. and Fatima, A. and Kaygusuz, E. and Khan, A. and Jameel, M. and Khan, S. and Tariq, M. and Anjum, I. and Altmüller, J. and Thiele, H. and Höning, S. and Baig, S.M. and Nürnberg, P. and Hussain, M.S. Genes 12 (5): 731. May 2021

الإتاحة: https://doi.org/10.3390/genes12050731Test
http://edoc.mdc-berlin.de/20505Test/
https://edoc.mdc-berlin.de/20505Test/
http://edoc.mdc-berlin.de/20505/1/20505oa.pdfTest
http://edoc.mdc-berlin.de/20505/6/20505suppl.zipTest

المؤلفون: Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hochscherf, J., Lindenblatt, D., Noegel, A. A., Tinschert, S., Niefind, K., Fortugno, P., Jose, J., Brancati, F., Nuernberg, P., Hussain, M. S.

مصطلحات موضوعية: ddc:no

العلاقة: Asif, M., Kaygusuz, E., Shinawi, M., Nickelsen, A., Hochscherf, J., Lindenblatt, D., Noegel, A. A., Tinschert, S., Niefind, K., Fortugno, P., Jose, J., Brancati, F., Nuernberg, P. and Hussain, M. S. (2020). De novo pathogenic variants in CSNK2B cause a new intellectual disability-craniodigital syndrome distinguished from Poirier-Bienvenu neurodevelopmental syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 129 - 131. LONDON: SPRINGERNATURE. ISSN 1476-5438

الإتاحة: https://kups.ub.uni-koeln.de/30896Test/

المؤلفون: Kaygusuz, E., I, Cetiner, H., Yavuz, H., Kocakusak, C. K., Hacihasanoglu, E., Dursun, N., Eken, M. K.

المساهمون: Kırıkkale Üniversitesi

مصطلحات موضوعية: p53, immunohistochemistry, leiomyomas, Ki-67, Atypical

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9506::3b1065477ef1d65db1578e303dc83d1cTest
https://hdl.handle.net/20.500.12587/7507Test

المؤلفون: Yavuz H, Çetiner H, Yorgancı C, Koç N, Kaygusuz E I, Cesur S

المصدر: Ege Tıp Dergisi. 53:218-221

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b951da146d301d49fba80aa6d2d65776Test
https://doi.org/10.19161/etd.344092Test

المؤلفون: Devranoglu, B., Keyif, B., Ilhan, G., Cogendez, E., Karateke, A., Eken, M. K., Kaygusuz, E. I.

المساهمون: Istanbul Zeynep Kamil Maternity & Children''s Diseases Training & Research Hospital ,, 228677

مصطلحات موضوعية: KADIN HASTALIKLARI & DOĞUM, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Klinik Tıp (MED), Klinik Tıp, ONKOLOJİ, Tıp, Kadın Hastalıkları ve Doğum, Cerrahi Tıp Bilimleri, Onkoloji

العلاقة: EUROPEAN JOURNAL OF GYNAECOLOGICAL ONCOLOGY; Eken M. K. , Kaygusuz E. I. , Ilhan G., Devranoglu B., Cogendez E., Keyif B., Karateke A., "Endometrial malignancies arising on endometrial polyps and precursor lesions", EUROPEAN JOURNAL OF GYNAECOLOGICAL ONCOLOGY, cilt.37, ss.827-832, 2016; vv_1032021; av_c253ac20-40c2-4e74-8d32-481883cebc11; http://hdl.handle.net/20.500.12627/128969Test; https://doi.org/10.12892/ejgo3256.2016Test; 37; 827; 832

الإتاحة: https://doi.org/20.500.12627/128969Test
https://doi.org/10.12892/ejgo3256.2016Test
https://hdl.handle.net/20.500.12627/128969Test

المؤلفون: I, Kaygusuz E, H, Çetiner, C, Yorgancı, H, Yavuz, S, Cesur, N, Koç

المصدر: Volume: 53, Issue: 4 218-221
Ege Tıp Dergisi

مصطلحات موضوعية: Sellüler fibrom,fibrosarkom,over, Cellular fibroma,fibrosarcoma,ovary

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::91344b6bf523f3be0d1a8c7be2e5673eTest
https://dergipark.org.tr/tr/pub/etd/issue/31444/344092Test

المؤلفون: Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., Yigit, G., Beleggia, F., Tinschert, S., Clayton-Smith, J., Vasudevan, P., Urquhart, J.E., Donnai, D., Fryer, A., Percin, F., Brancati, F., Dobbie, A., Smigiel, R., Gillessen-Kaesbach, G., Wollnik, B., Noegel, A.A., Newman, W.G., Nürnberg, P.

مصطلحات موضوعية: Technology Platforms

العلاقة: Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Hussain, M.S. and Battaglia, A. and Szczepanski, S. and Kaygusuz, E. and Toliat, M.R. and Sakakibara, S. and Altmüller, J. and Thiele, H. and Nürnberg, G. and Moosa, S. and Yigit, G. and Beleggia, F. and Tinschert, S. and Clayton-Smith, J. and Vasudevan, P. and Urquhart, J.E. and Donnai, D. and Fryer, A. and Percin, F. and Brancati, F. and Dobbie, A. and Smigiel, R. and Gillessen-Kaesbach, G. and Wollnik, B. and Noegel, A.A. and Newman, W.G. and Nürnberg, P. American Journal of Human Genetics 95 (5): 622-632. 6 November 2014

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.008Test
http://edoc.mdc-berlin.de/20731Test/
https://edoc.mdc-berlin.de/20731Test/