학술논문
'학술논문'
에서 검색결과 66건 | 목록
1~10
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; 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.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; 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.; 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.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Academic Journal
Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J. A.; van der Westhuizen, Francois H.
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Michelle Bisschoff; Izelle Smuts; Marli Dercksen; Maryke Schoonen; Barend C. Vorster; George van der Watt; Careni Spencer; Kireshnee Naidu; Franclo Henning; Surita Meldau; Robert McFarland; Robert W. Taylor; Krutik Patel; Mahmoud R. Fassad; Jana Vandrovcova; The ICGNMD Consortium; Ronald J. A. Wanders; Francois H. van der Westhuizen
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Academic Journal
Dodd, Daniel O.; Mechaussier, Sabrina; Yeyati, Patricia L.; McPhie, Fraser; Anderson, Jacob R.; Khoo, Chen Jing; Shoemark, Amelia; Gupta, Deepesh K.; Attard, Thomas; Zariwala, Maimoona A.; Legendre, Marie; Bracht, Diana; Wallmeier, Julia; Gui, Miao; Fassad, Mahmoud R.; Parry, David A.; Tennant, Peter A.; Meynert, Alison; Wheway, Gabrielle; Fares-Taie, Lucas; Black, Holly A.; Mitri-Frangieh, Rana; Faucon, Catherine; Kaplan, Josseline; Patel, Mitali; McKie, Lisa; Megaw, Roly; Gatsogiannis, Christos; Mohamed, Mai A.; Aitken, Stuart; Gautier, Philippe; Reinholt, Finn R.; Hirst, Robert A.; O'Callaghan, Chris; Heimdal, Ketil; Bottier, Mathieu; Escudier, Estelle; Crowley, Suzanne; Descartes, Maria; Jabs, Ethylin W.; Kenia, Priti; Amiel, Jeanne; Bacci, Giacomo Maria; Calogero, Claudia; Palazzo, Viviana; Tiberi, Lucia; Bluemlein, Ulrike; Rogers, Andrew; Wambach, Jennifer A.; Wegner, Daniel J.; Fulton, Anne B.; Kenna, Margaret; Rosenfeld, Margaret; Holm, Ingrid A.; Quigley, Alan; Hall, Emma A.; Murphy, Laura C.; Cassidy, Diane M.; von Kriegsheim, Alex; Papon, Jean-Francois; Pasquier, Laurent; Murris, Marlene S.; Chalmers, James D.; Hogg, Claire; Macleod, Kenneth A.; Urquhart, Don S.; Unger, Stefan; Aitman, Timothy J.; Amselem, Serge; Leigh, Margaret W.; Knowles, Michael R.; Omran, Heymut; Mitchison, Hannah M.; Brown, Alan; Marsh, Joseph A.; Welburn, Julie P. I.; Ti, Shih-Chieh; Horani, Amjad; Rozet, Jean-Michel; Perrault, Isabelle; Mill, Pleasantine; Scottish Genomes Partnership; Genomics England Res Consortium; Undiagnosed Dis Network
Academic Journal
Shoman, Walaa; Elbanna, Amr G.; Fassad, Mahmoud R.; Elheneidy, Moushira A. R.; Petrarca, Laura; Elsawy, Ihab; Fasseeh, Nader; 3billion Consortium
Academic Journal
Direnis Erdinc; Alejandro Rodríguez‐Luis; Mahmoud R Fassad; Sarah Mackenzie; Christopher M Watson; Sebastian Valenzuela; Xie Xie; Katja E Menger; Kate Sergeant; Kate Craig; Sila Hopton; Gavin Falkous; Genomics England Research Consortium; Joanna Poulton; Hector Garcia‐Moreno; Paola Giunti; Carlos A deMoura Aschoff; Jonas A Morales Saute; Amelia J Kirby; Camilo Toro; Lynne Wolfe; Danica Novacic; Lior Greenbaum; Aviva Eliyahu; Ortal Barel; Yair Anikster; Robert McFarland; Gráinne S Gorman; Andrew M Schaefer; Claes M Gustafsson; Robert W Taylor; Maria Falkenberg; Thomas J Nicholls
EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)
Academic Journal
Nisreen Rumman; Mahmoud R. Fassad; Corine Driessens; Patricia Goggin; Nader Abdelrahman; Adel Adwan; Mutaz Albakri; Jagrati Chopra; Regan Doherty; Bishara Fashho; Grace M. Freke; Abdallah Hasaballah; Claire L. Jackson; Mai A. Mohamed; Reda Abu Nema; Mitali P. Patel; Reuben J. Pengelly; Ahmad Qaaqour; Bruna Rubbo; N. Simon Thomas; James Thompson; Woolf T. Walker; Gabrielle Wheway; Hannah M. Mitchison; Jane S. Lucas
ERJ Open Research, Vol 9, Iss 2 (2023)
Academic Journal
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; 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; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; 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.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Academic Journal
Rüdiger Schultz; Varpu Elenius; Mahmoud R. Fassad; Grace Freke; Andrew Rogers; Amelia Shoemark; Tiina Koistinen; Mai A. Mohamed; Jacqueline S. Y. Lim; Hannah M. Mitchison; Anu I. Sironen
Frontiers in Genetics, Vol 13 (2022)
Academic Journal
Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; 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 J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, 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.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.
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[검색어] Fassad, Mahmoud R.
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