المؤلفون: Jesse, Sarah^{Aff1, Aff4, IDs13023023028637_cor1}, Müller, Hans-Peter, Huppertz, Hans-Jürgen, Andres, Stephanie, Ludolph, Albert C.^{Aff1, Aff4}, Schön, Michael, Boeckers, Tobias M.^{Aff4, Aff5}, Kassubek, Jan^{Aff1, Aff4}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Koza, Sylvia A., Tabet, Anne C., Bonaglia, Maria C., Andres, Stephanie, Anderlid, Britt-Marie., Aten, Emmelien, Stiefsohn, Dominique, Evans, D. Gareth, van Ravenswaaij-Arts, Conny M.A., Kant, Sarina G.

المصدر: In European Journal of Medical Genetics July 2023 66(7)

المؤلفون: Gaasterland, C.M.W., Klein Haneveld, M.J., Vyshka, Klea, Hugon, A., van Eeghen, A.M., Alhambra, Norma, Anderlid, Britt-Marie, Andres, Stephanie, Aten, Emmelien, Guedes, Rui Barbosa, Bonaglia, Maria C., Bourgeron, Thomas, Burdeus-Olavarrieta, Monica, Carbin, Maya J., Cooke, Jennifer, Damstra, Robert J., de Coo, Irenaeus F.M., Di Domenico, Stella, Evans, D. Gareth, Fernández-Fructuoso, José Ramón, Grabrucker, Andreas M., Gunnarson, Cecilia, Hadzsiev, Kinga, Hennekam, Raoul C., Jesse, Sarah, Kant, Sarina G., Koza, Sylvia A., Kuiper, Els, Landlust, Annemiek M., Lapunzina, Pablo, Loth, Eva, Mansour, Sahar, Maruani, Anna, Mattina, Teresa, Matulevičienė, Aušra, Nevado, Julián, Parker, Susanne, Robert, Sandra, Sala, Carlo, San José Cáceres, Antonia, Schön, Michael, Šiaurytė, Kamilė, Stemkens, Daphne, Stiefsohn, Dominique, Swillen, Ann, Tabet, Anne C., Toro, Roberto, Turner, Alison, van Balkom, Ingrid D.C., van Buggenhout, Griet, van Eeghen, Agnies M., van Ravenswaaij-Arts, Conny M.A., van Weering, Sabrina, Verpelli, Chiara, Vignes, Stephane, Vogels, Annick, Walinga, Margreet, Stemkens, D., Maruani, A., Hadzsiev, K., van Balkom, I.D.C.

المصدر: In European Journal of Medical Genetics July 2023 66(7)

المؤلفون: Sahinbegovic, Hana, Andres, Stephanie, Langer-Freitag, Sabine, Divane, Aspasia, Ieremiadou, Fotini, Mehmedbasic, Senad, Catic, Aida^{Aff4, IDs13039022005923_cor7}

المصدر: Molecular Cytogenetics. 15(1)

المؤلفون: Jacob, Maureen, Brugger, Melanie, Andres, Stephanie, Wagner, Matias, Graf, Elisabeth, Berutti, Riccardo, Tilch, Erik, Pavlov, Martin, Mayerhanser, Katharina, Hoefele, Julia, Meitinger, Thomas, Winkelmann, Juliane, Brunet, Theresa

المصدر: Neuropediatrics; Aug2024, Vol. 55 Issue 4, p260-264, 5p

مصطلحات موضوعية: NUCLEOTIDE sequencing, SINGLE nucleotide polymorphisms, FAMILY counseling, DNA, FRAMESHIFT mutation

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المؤلفون: Cenni, Camille, Andres, Stephanie, Hempel, Maja, Strom, Tim M., Thomas, Ellen, Davies, Angela, Timoney, Norma, Frigiola, Alessandra, Logan, Malcolm, Holder-Espinasse, Muriel

المصدر: In European Journal of Medical Genetics July 2021 64(7)

المؤلفون: Barratt, Jonathan, Liew, Adrian, Yeo, See Cheng, Fernström, Anders, Barbour, Sean J., Sperati, C. John, Villanueva, Russell, Wu, Ming-Ju, Wang, Dazhe, Borodovsky, Anna, Badri, Prajakta, Yureneva, Elena, Bhan, Ishir, Cattran, Daniel, Achanti, Anand, Budisavljevic, Milos, Walker, Linda, Aggarwal, Naresh, Andres, Stephanie, Navarro, Marie Stella, Gabuay, Haydee, Barany, Peter, Heimbürger, Olof, Durgé, Ulrika Jensen, Barbour, Sean, Sheriff, Zainab, MacLeod, Paula, Barratt, Jonathan, Cheung, Chee Kay, Selvaskandan, Haresh, Sklarzewicz, Justyna, Cattran, Daniel, Reich, Heather N., Ling, Paul, Jauhal, Arenn, Chantrel, Francois, Grellier, Jimmy, Alzina, Camille, Chen, Jin Bor, Chen, Kuan-Hsing, Hsu, Hsiang-Hao, Yang, Huang-Yu, Tu, Kun-Hua, Encarnacion, Montserrat Diaz, Rusiñol, Helena Marco, San Miguel Amigo, Luz, Bardaju de Quixano, Beatriz, Torres, Irene Silva, Espinosa, Mario, López-López, Isabel, Regalado, Rocío, Fernström, Anders, Gylling, Micael, Uhlin, Fredrik, Fervenza, Fernando, Goh, Bak Leong, Ibrahim, Fairol H., Alias, Aida Azlin, Lian, Tay Li, Hour, Billy, Rosales, Tyrone, Macias, Veronica, Kaskas, Marwan, Lanot, Antoine, Gueutin, Victor, Brucato, Sylvie, Legrand, Eric, Cabantous, Julie, Martin, Nadia, Barros, Xoana, Martínez, Cristina, Capdevila, Montserrat, Rovira, Irene, Mohamad Nor, Fariz Safhan, Ahmad, Mohd Kamil, Syahril Rozli Wan Ali, Wan Ahmad, Ng, Tze Jian, Atira Hisham, ‘Izzah’, Kamaronzaman, Nur Liyana, Mohamed Asri, Nadia Shahirah, Abu Othman, Mohamad Haziq, Mohd, Mohd Shahril, Moranne, Olivier, Ng, Kok Peng, Ooi, Shok Hoon, Ambros, Joan Torras, Coloma, Ana, Draibe, Juliana, Galofre, Claudia, Troyanov, Stephan, Marcotte, Guylaine, Villanueva, Russell, De Leon, Donnah Franceska, Wu, Ming-Ju, Lee, Shan, Yahya, Rosnawati, Yee, Seow Yeing, Wan Mohamad, Wan Hazlina, Nordin, Nurul Zaynah, Abdul Wahab, Muhamad Zaimi, Rohani, Zurina Che, Mod Baharuddin, Mohd Alfaisal, Asswad Md Kassim, Muhamad Nur, Zuhafifah Mohd Zaki, Siti Nur, Yeo, See Cheng, Lim, Ru Sin, Soh, Siew Hwa, Lee, Felicia, Jiao, Hongli, Lim, Rosa, Lin, Kai Yan, Zaoui, Philippe, Carron, Pierre-Louis, Tartry, David, Bugnazet, Mathilde, Imerzoukene, Farida, Theo, Florence, Dhion, Séverine, Argoud, Meryll, Vial, Gaëlle, Lehman, Audrey, Romanet, Thierry

المصدر: Clinical Journal of The American Society of Nephrology; April 2024, Vol. 19 Issue: 4 p452-462, 11p

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