P.87 Muscle cramps may be a clue for GFPT1 gene related congenital myasthenic syndrome von Köken, Ö. Yayıcı, Öz Tunçer, G., Cavdarli, B., Ceylan, A., Aksoy, A., Topaloğlu, H.

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P293 Clinical and genetic spectrum of sarcoglycanopathies in a cohort of Turkish patients with a possible founder variation von Çavdarlı, B., Ardıçlı, D., Ceylan, A., Köken, Ö Yayıcı, Ceylan, G Güleç, Gündüz, C Semerci, Topaloglu, H.

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APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.316 Diagnostic yield of targeted next-generation sequencing panels in muscular dystrophies von Cavdarli, B., Ceylan, A., Satılmış, B. Arslan, Köken, Ö. Yayici, Gündüz, C. Semerci, Topaloglu, H.

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APPLICATION OF NEXT GENERATION TECHNOLOGIES von Cavdarli, B., Ceylan, A., Satılmış, B. Arslan, Köken, Ö. Yayici, Gündüz, C. Semerci, Topaloglu, H.

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APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.317 Genetic algorithm in etiological research of hereditary peripheral neuropathies von Ceylan, G., Habiloglu, E., Cavdarli, B., Tuncez, E., Bilen, S., Köken, Ö. Yayıcı, Gündüz, C. Semerci

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APPLICATION OF NEXT GENERATION TECHNOLOGIES von Ceylan, G., Habiloglu, E., Cavdarli, B., Tuncez, E., Bilen, S., Köken, Ö. Yayıcı, Gündüz, C. Semerci

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EP.25A limb girdle muscular dystrophy phenotype with mutations in ISPD and TTN von Aksoy, A., Yayıcı Köken, Ö., Çavdarlı, B., Talim, B., Yüksel, D.

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Neuromuscular disease genetics in under-represented populations: increasing data diversity von Wilson, L.A., Macken, W.L., Perry, L.D., Record, C.J., Schon, K.R., Frezatti, R.S.S., Raga, S., Naidu, K., Köken, Ö.Y., Polat, I., Kapapa, M.M., Dominik, N., Efthymiou, S., Morsy, H., Nel, M., Fassad, M.R., Gao, F., Patel, K., Schoonen, M., Bisschoff, M., Vorster, A., Jonvik, H., Human, R., Lubbe, E., Nonyane, M., Vengalil, S., Nashi, S., Srivastava, K., Lemmers, R.J.L.F., Reyaz, A., Mishra, R., Töpf, A., Trainor, C.I., Steyn, E.C., Mahungu, A.C., Vliet, P.J. van der, Ceylan, A.C., Hiz, A.S., Çavdarli, B., Gündüz, C.N.S., Ceylan, G.G., Nagappa, M., Tallapaka, K.B., Govindaraj, P., Maarel, S.M. van der, Narayanappa, G., Nandeesh, B.N., Somwe, S.W., Bearden, D.R., Kvalsund, M.P., Ramdharry, G.M., Oktay, Y., Yis, U., Topaloglu, H., Sarkozy, A., Bugiardini, E., Henning, F., Wilmshurst, J.M., Heckmann, J.M., McFarland, R., Taylor, R.W., Smuts, I., Westhuizen, F.H. van der, Sobreira, C.F.D., Tomaselli, P.J., Marques, W., Bhatia, R., Dalal, A., Srivastava, M.V.P., Yareeda, S., Nalini, A., Vishnu, V.Y., Thangaraj, K., Straub, V., Horvath, R., Chinnery, P.F., Pitceathly, R.D.S., Muntoni, F., Houlden, H., Vandrovcova, J., Reilly, M.M., Hanna, M.G.

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies von Iqbal, M, Maroofian, R, Cavdarli, B, Riccardi, F, Field, M, Banka, S, Bubshait, DK, Li, Y, Hertecant, J, Baig, SM, Dyment, D, Efthymiou, S, Abdullah, U, Makhdoom, EUH, Ali, Z, De Almeida, TS, Molinari, F, Mignon-Ravix, C, Chabrol, B, Antony, J, Ades, L, Pagnamenta, AT, Jackson, A, Douzgou, S, Beetz, C, Karageorgou, V, Vona, B, Rad, A, Baig, JM, Sultan, T, Alvi, JR, Maqbool, S, Rahman, F, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Karimiani, EG, Sarwar, Y, Khan, S, Jameel, M, Noegel, AA, Budde, B, Altmueller, J, Motameny, S, Hoehne, W, Houlden, H, Nuernberg, P, Wollnik, B, Villard, L, Alkuraya, FS, Osmond, M, Hussain, MS, Yigit, G

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3D assessment of facial contours of patients wearing either complete denture or implant-supported fixed dentures von Demirekin, Z, Gunaydin, A, Cavdarli, K, Findik, Y, Turkaslan, S, Baykul, T

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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies von Iqbal, Maria, Maroofian, Reza, Çavdarlı, Büşranur, Riccardi, Florence, Field, Michael, Banka, Siddharth, Bubshait, Dalal K., Li, Yun, Hertecant, Jozef, Baig, Shahid Mahmood, Dyment, David, Efthymiou, Stephanie, Abdullah, Uzma, Makhdoom, Ehtisham Ul Haq, Ali, Zafar, Scherf de Almeida, Tobias, Molinari, Florence, Mignon-Ravix, Cécile, Chabrol, Brigitte, Antony, Jayne, Ades, Lesley, Pagnamenta, Alistair T., Jackson, Adam, Douzgou, Sofia, Beetz, Christian, Karageorgou, Vasiliki, Vona, Barbara, Rad, Aboulfazl, Baig, Jamshaid Mahmood, Sultan, Tipu, Alvi, Javeria Raza, Maqbool, Shazia, Rahman, Fatima, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Sarwar, Yasra, Khan, Sheraz, Jameel, Muhammad, Noegel, Angelika A., Budde, Birgit, Altmüller, Janine, Motameny, Susanne, Höhne, Wolfgang, Houlden, Henry, Nürnberg, Peter, Wollnik, Bernd, Villard, Laurent, Alkuraya, Fowzan Sami, Osmond, Matthew, Hussain, Muhammad Sajid, Yigit, Gökhan

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Neuromuscular disease genetics in under-represented populations: increasing data diversity von Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo SS, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard JLF, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, MV Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert DS, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

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