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1دورية أكاديمية
المؤلفون: Töpf, AnaAff1, IDs41588023016510_cor1, Cox, Dan, Zaharieva, Irina T., Di Leo, ValeriaAff1, Aff3, Sarparanta, JaakkoAff4, Aff5, Jonson, Per HaraldAff4, Aff5, Sealy, Ian M.Aff6, Aff7, Smolnikov, Andrei, White, Richard J.Aff6, Aff7, Vihola, AnnaAff4, Aff5, Aff9, Savarese, MarcoAff4, Aff5, Merteroglu, MuniseAff6, Aff10, Wali, Neha, Laricchia, Kristen M.Aff12, Aff13, Venturini, Cristina, Vroling, Bas, Stenton, Sarah L.Aff12, Aff16, Cummings, Beryl B., Harris, ElizabethAff1, Aff17, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G.Aff27, Aff28, Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R.Aff30, Aff31, Genetti, Casie A., Grosmann, Carla, Jungbluth, HeinzAff33, Aff34, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, PilarAff38, Aff39, Mongini, Tiziana E., Muelas, NuriaAff38, Aff39, Aff41, Aff42, Nishikawa, Atsuko, O’Donnell-Luria, AnneAff12, Aff16, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W.Aff30, Aff31, Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J.Aff38, Aff39, MacArthur, Daniel G.Aff12, Aff56, Aff57, Sarkozy, Anna, Cordell, Heather J., Udd, BjarneAff4, Aff5, Aff9, Busch-Nentwich, Elisabeth M.Aff6, Aff7, Muntoni, FrancescoAff2, Aff59, Straub, VolkerAff1, IDs41588023016510_cor85
المصدر: Nature Genetics. 56(3):395-407
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2دورية أكاديمية
المؤلفون: Pugliese, AlessiaAff1, Aff2, Della Marina, Adela, de Paula Estephan, EduardoAff4, Aff5, Zanoteli, Edmar, Roos, AndreasAff2, Aff3, Aff6, Aff7, Schara-Schmidt, Ulrike, Hentschel, Andreas, Azuma, Yoshiteru, Töpf, Ana, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, HannsAff2, Aff10, Aff11, Aff12, Aff13, IDs0041502312070w_cor12
المصدر: Journal of Neurology. 271(3):1331-1341
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3دورية أكاديمية
المؤلفون: Alba Segarra-Casas, Vicente A. Yépez, German Demidov, Steven Laurie, Anna Esteve-Codina, Julien Gagneur, Yolande Parkhurst, Robert Muni-Lofra, Elizabeth Harris, Chiara Marini-Bettolo, Volker Straub, Ana Töpf
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 14, p 7793 (2024)
مصطلحات موضوعية: Duchenne muscular dystrophy, female carrier, DMD, genetic diagnosis, RNA sequencing, whole genome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Polavarapu, Kiran, O'Neil, Daniel, Thompson, Rachel, Spendiff, Sally, Nandeesh, Bevinahalli, Vengalil, Seena, Huddar, Akshata, Baskar, Dipti, Arunachal, Gautham, Kotambail, Ananthapadmanabha, Bhatia, Saloni, Tumulu, Seetam Kumar, Matalonga, Leslie, Töpf, Ana, Laurie, Steven, Zeldin, Joshua, Nashi, Saraswati, Unnikrishnan, Gopikrishnan, Nalini, Atchayaram, Lochmüller, Hanns
المصدر: In Neuromuscular Disorders June 2024 39:10-18
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5دورية أكاديمية
المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, O’Donnell-Luria, Anne
المصدر: In The American Journal of Human Genetics 2 May 2024 111(5):863-876
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6دورية أكاديمية
المؤلفون: Hentschel, Andreas, Meyer, Nancy, Kohlschmidt, Nicolai, Groß, Claudia, Sickmann, Albert, Schara-Schmidt, Ulrike, Förster, Fabian, Töpf, Ana, Christiansen, Jon, Horvath, Rita, Vorgerd, Matthias, Thompson, Rachel, Polavarapu, Kiran, Lochmüller, Hanns, Preusse, Corinna, Hannappel, Luis, Schänzer, Anne, Grüneboom, Anika, Gangfuß, Andrea, Roos, AndreasAff2, Aff6, Aff7, IDs12035023032199_cor20
المصدر: Molecular Neurobiology. 60(5):2602-2618
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7دورية أكاديمية
المؤلفون: Zemorshidi, Fariba, Töpf, Ana, Claeys, Kristl G., McFarlane, Adam, Patton, Annabel, Nafissi, Shahriar, Straub, Volker
المصدر: In Neuromuscular Disorders January 2024 34:83-88
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8دورية أكاديمية
المؤلفون: Wijngaard, RobinAff1, Aff2, Demidov, German, O’Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, WouterAff1, Aff4, de Boer, ElkeAff1, Aff2, Vissers, Lisenka E. L. M.Aff1, Aff2, Kamsteeg, Erik-JanAff1, Aff2, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, te Paske, Iris B. A. W.Aff1, Aff4, de Voer, Richarda M.Aff1, Aff4, Faivre, Laurence, Denommé-Pichon, Anne-SophieAff6, Aff7, Duffourd, YannisAff6, Aff7, Vitobello, AntonioAff6, Aff7, Chevarin, MartinAff6, Aff7, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J., Magrinelli, Francesca, Rocca, ClarissaAff11, Aff12, Hanna, Michael G., Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, Gilissen, ChristianAff1, Aff4, IDs41431023014929_cor30
المصدر: European Journal of Human Genetics. 32(2):248-248
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9دورية أكاديمية
المؤلفون: Weihl, Conrad C.Aff1, IDs00401022025108_cor1, Töpf, Ana, Bengoechea, Rocio, Duff, Jennifer, Charlton, Richard, Garcia, Solange Kapetanovic, Domínguez-González, Cristina, Alsaman, Abdulaziz, Hernández-Laín, Aurelio, Franco, Luis Varona, Sanchez, Monica Elizabeth Ponce, Beecroft, Sarah J., Goullee, Hayley, Daw, Jil, Bhadra, Ankan, True, Heather, Inoue, Michio, Findlay, Andrew R., Laing, Nigel, Olivé, MontseAff11, Aff12, Aff13, Ravenscroft, Gianina, Straub, Volker
المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 145(1):127-143
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10دورية أكاديمية
المؤلفون: Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M., Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M., Rojas-García, Ricard, Díaz-Manera, Jordi
المصدر: In Neuromuscular Disorders October 2023 33(10):744-753