المؤلفون: De Hayr, Lachlan, Blok, Laura E.R., Dias, Kerith-Rae, Long, Jingyi, Begemann, Anaïs, Moir, Robyn D., Willis, Ian M., Mocera, Martina, Siegel, Gabriele, Steindl, Katharina, Evans, Carey-Anne, Zhu, Ying, Zhang, Futao, Field, Michael, Ma, Alan, Adès, Lesley, Josephi-Taylor, Sarah, Pfundt, Rolph, Zaki, Maha S., Tomoum, Hoda, Rauch, Anita

المصدر: Genetics in Medicine, 27 (1)

مصطلحات موضوعية: GTF3C3, Intellectual disability, Minigene analysis, RNA polymerase III, Tfc4

وصف الملف: application/application/pdf

Relation: http://hdl.handle.net/20.500.11850/713501

الاتاحة: https://hdl.handle.net/20.500.11850/713501
https://doi.org/10.3929/ethz-b-000713501

المؤلفون: De Hayr, Lachlan, Blok, Laura E.R., Dias, Kerith-Rae, Long, Jingyi, Begemann, Anaïs, Moir, Robyn D., Willis, Ian M., Mocera, Martina, Siegel, Gabriele, Steindl, Katharina, Evans, Carey-Anne, Zhu, Ying, Zhang, Futao, Field, Michael, Ma, Alan, Adès, Lesley, Josephi-Taylor, Sarah, Pfundt, Rolph, Zaki, Maha S., Tomoum, Hoda, Gregor, Anne, Laube, Julia, Reis, André, Maddirevula, Sateesh, Hashem, Mais O., Zweier, Markus, Alkuraya, Fowzan S., Maroofian, Reza, Buckley, Michael F., Gleeson, Joseph G., Zweier, Christiane, Coll-Tané, Mireia, Koolen, David A., Rauch, Anita, Roscioli, Tony, Schenck, Annette, Harvey, Robert J.

المصدر: Genetics in Medicine ; page 101253 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101253
https://api.elsevier.com/content/article/PII:S1098360024001874?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024001874?httpAccept=text/plain

المؤلفون: Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E.

المصدر: The American Journal of Human Genetics ; volume 109, issue 4, page 601-617 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2022.03.002
https://api.elsevier.com/content/article/PII:S0002929722000982?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929722000982?httpAccept=text/plain

المؤلفون: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

المصدر: Genetics in Medicine ; volume 24, issue 9, page 1952-1966 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.06.001
https://api.elsevier.com/content/article/PII:S1098360022008036?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022008036?httpAccept=text/plain

المؤلفون: Fenckova, Michaela, Blok, Laura E.R., Asztalos, Lenke, Goodman, David P., Cizek, Pavel, Singgih, Euginia L., Glennon, Jeffrey C., IntHout, Joanna, Zweier, Christiane, Eichler, Evan E., von Reyn, Catherine R., Bernier, Raphael A., Asztalos, Zoltan, Schenck, Annette

المساهمون: National Institute of Mental Health, Nederlandse Organisatie voor Wetenschappelijk Onderzoek

المصدر: Biological Psychiatry ; volume 86, issue 4, page 294-305 ; ISSN 0006-3223

الاتاحة: http://dx.doi.org/10.1016/j.biopsych.2019.04.029
https://api.elsevier.com/content/article/PII:S0006322319313265?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0006322319313265?httpAccept=text/plain

المؤلفون: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

المصدر: Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1952-1966, 15p