Resultats de la cerca - Yigit, Gökhan

Epstein-Barr virus LMP2A signaling in statu nascendi mimics a B cell antigen receptor-like activation signal per Engels, Niklas, Yigit, Gökhan, Emmerich, Christoph H, Czesnik, Dirk, Schild, Detlev, Wienands, Jürgen

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Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome per Moosa, Shahida, Altmüller, Janine, Lyngbye, Troels, Christensen, Rikke, Li, Yun, Nürnberg, Peter, Yigit, Gökhan, Vogel, Ida, Wollnik, Bernd

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Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures per Gönenc, Ipek Ilgin, Wolff, Alexander, Schmidt, Julia, Zibat, Arne, Müller, Christian, Cyganek, Lukas, Argyriou, Loukas, Räschle, Markus, Yigit, Gökhan, Wollnik, Bernd

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Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ per Kalasova, Ilona, Hanzlikova, Hana, Gupta, Neerja, Li, Yun, Altmüller, Janine, Reynolds, John J., Stewart, Grant S., Wollnik, Bernd, Yigit, Gökhan, Caldecott, Keith W.

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Familial cleft tongue caused by a unique translation initiation codon variant in TP63 per Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd

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A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease per Shomroni, Orr, Sitte, Maren, Schmidt, Julia, Parbin, Sabnam, Ludewig, Fabian, Yigit, Gökhan, Zelarayan, Laura Cecilia, Streckfuss-Bömeke, Katrin, Wollnik, Bernd, Salinas, Gabriela

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Human RAD50 deficiency: Confirmation of a distinctive phenotype per Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.

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Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state per Yigit, Gökhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmüller, Janine, Nürnberg, Peter, Douiev, Liza, Kaulfuss, Silke, Burfeind, Peter, Wollnik, Bernd, Brockmann, Knut

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Mutations in CDK5RAP2 cause Seckel syndrome per Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd

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Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies per Beck, Bodo B, Baasner, Anne, Buescher, Anja, Habbig, Sandra, Reintjes, Nadine, Kemper, Markus J, Sikora, Przemyslaw, Mache, Christoph, Pohl, Martin, Stahl, Mirjam, Toenshoff, Burkhard, Pape, Lars, Fehrenbach, Henry, Jacob, Dorrit E, Grohe, Bernd, Wolf, Matthias T, Nürnberg, Gudrun, Yigit, Gökhan, Salido, Eduardo C, Hoppe, Bernd

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Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish per Asharani, P.V., Keupp, Katharina, Semler, Oliver, Wang, Wenshen, Li, Yun, Thiele, Holger, Yigit, Gökhan, Pohl, Esther, Becker, Jutta, Frommolt, Peter, Sonntag, Carmen, Altmüller, Janine, Zimmermann, Katharina, Greenspan, Daniel S., Akarsu, Nurten A., Netzer, Christian, Schönau, Eckhard, Wirth, Radu, Hammerschmidt, Matthias, Nürnberg, Peter, Wollnik, Bernd, Carney, Thomas J.

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia per Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G., Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling per Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

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Biallelic variants in YRDC cause a developmental disorder with progeroid features per Schmidt, Julia, Goergens, Jonas, Pochechueva, Tatiana, Kotter, Annika, Schwenzer, Niko, Sitte, Maren, Werner, Gesa, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Isensee, Jörg, Li, Yun, Müller, Christian, Leube, Barbara, Reinhardt, H. Christian, Hucho, Tim, Salinas, Gabriela, Helm, Mark, Jachimowicz, Ron D., Wieczorek, Dagmar, Kohl, Tobias, Lehnart, Stephan E., Yigit, Gökhan, Wollnik, Bernd

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LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome per Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd

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Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis per Keupp, Katharina, Li, Yun, Vargel, Ibrahim, Hoischen, Alexander, Richardson, Rebecca, Neveling, Kornelia, Alanay, Yasemin, Uz, Elif, Elcioğlu, Nursel, Rachwalski, Martin, Kamaci, Soner, Tunçbilek, Gökhan, Akin, Burcu, Grötzinger, Joachim, Konas, Ersoy, Mavili, Emin, Müller-Newen, Gerhard, Collmann, Hartmut, Roscioli, Tony, Buckley, Michael F, Yigit, Gökhan, Gilissen, Christian, Kress, Wolfram, Veltman, Joris, Hammerschmidt, Matthias, Akarsu, Nurten A, Wollnik, Bernd

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HACE1 deficiency leads to structural and functional neurodevelopmental defects per Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K., Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J., Deardorff, Matthew A., Bedoukian, Emma C., Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E. Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J., Penninger, Josef M.

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Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis per Ganapathi, Mythily, Argyriou, Loukas, Martínez-Azorín, Francisco, Morlot, Susanne, Yigit, Gökhan, Lee, Teresa M., Auber, Bernd, von Gise, Alexander, Petrey, Donald S., Thiele, Holger, Cyganek, Lukas, Sabater-Molina, María, Ahimaz, Priyanka, Cabezas-Herrera, Juan, Sorlí-García, Moisés, Zibat, Arne, Siegelin, Markus D., Burfeind, Peter, Buchovecky, Christie M., Hasenfuss, Gerd, Honig, Barry, Li, Yun, Iglesias, Alejandro D., Wollnik, Bernd

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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome per Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter

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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome per Bögershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Özlem Simsek, Beleggia, Filippo, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin, Kayserili, Hülya, Liu, Yicheng, Banka, Siddharth, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar, Elcioglu, Nursel, Prontera, Paolo, Lyonnet, Stanislas, Meitinger, Thomas, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray, Yigit, Gökhan, Li, Yun, Katsanis, Nicholas, Wollnik, Bernd

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