학술논문
'학술논문'
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1~10
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.
Academic Journal
Shoman, Walaa; Elbanna, Amr G.; Fassad, Mahmoud R.; Elheneidy, Moushira A. R.; Petrarca, Laura; Ryu, Seung Woo; Kim, JiHye; Song, Yongjun; Hyun, Seong‐In; Elsawy, Ihab; Fasseeh, Nader
Pediatric Pulmonology; Jun2024, Vol. 59 Issue 6, p1578-1588, 11p
Book
In Neurogenetics for the Practitioner 2024:373-387
Academic Journal
Fassad, Mahmoud R.; Amin, Asmaa K.; Morsy, Heba A.; Issa, Noha M.; Bayoumi, Nader H.; El Shafei, Sahar A.; Kholeif, Soha F.
In Egyptian Journal of Medical Human Genetics July 2017 18(3):219-224
Periodical
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; March 2024, Vol. 56 Issue: 3 p395-407, 13p
Baek, Rena C.; Bonardo, Pablo; Brady, Philip; Butterfield, Russell J.; Calame, Daniel G.; Chung, Wendy K.; Cohen, Bernard A.; Corvin, Aiden; Daich Varela, Malena; de Boer, Irene; Dyment, David A.; Eratne, Dhamidhu; Fassad, Mahmoud R.; Federico, Antonio; Fink, John K.; Finn, Patrick F.; Georgiou, Michalis; Gill, Pritmohinder S.; Heron, Elizabeth; Huq, Aamira J.; Jinnah, H.A.; Kernohan, Kristin D.; Kim, Jong-Won; Kinariwalla, Neha; Koleilat, Alaa; Lawrence, Chloe J.; Lequin, Maarten; Li, Hong; Lin, Ava Yun; Lupski, James R.; Lynch, David S.; Manberg, Stephanie; Marafi, Dana; Martini, Paolo G.V.; Matthews, Emma; McFarland, Robert; Menkovic, Iskren; Michaelides, Michel; Millington, David S.; Muthusamy, Karthik; Oegema, Renske; Ormond, Cathal; Park, Helen H.; Park, Kyung Sun; Pastores, Gregory M.; Patel, Krutik; Porter-Gill, Patricia A.; Reisin, Ricardo; Rule, Don; Ryan, Niamh; Scarpa, Maurizio; Schimmenti, Lisa A.; Schottlaender, Lucía; Tay, Stacey K.H.; Taylor, Robert W.; Terwindt, Gisela M.; van den Maagdenberg, Arn M.J.M.; Velakoulis, Dennis; Vengoechea, Jaime; Wade, Charles; Wagner, Matias; Wang, Leo H.; Wortmann, Saskia B.; Younger, David S.; Yu, Feliciano B., Jr.; Ziegler, Alban C.
In Neurogenetics for the Practitioner 2024:xiii-xv
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
Walton, Travis; Gui, Miao; Velkova, Simona; Fassad, Mahmoud R.; Hirst, Robert A.; Haarman, Eric; O’Callaghan, Christopher; Bottier, Mathieu; Burgoyne, Thomas; Mitchison, Hannah M.; Brown, Alan
Nature; Jun2023, Vol. 618 Issue 7965, p625-633, 9p
Academic Journal
Schultz, Rüdiger; Elenius, Varpu; Fassad, Mahmoud R.; Freke, Grace; Rogers, Andrew; Shoemark, Amelia; Koistinen, Tiina; Mohamed, Mai A.; Lim, Jacqueline S. Y.; Mitchison, Hannah M.; Sironen, Anu I.
Frontiers in Genetics; 9/30/2022, Vol. 13, p1-11, 11p
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
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
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[AR] Fassad, Mahmoud R.
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