학술논문
'학술논문'
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Academic Journal
Fasham, James; Huebner, Antje K; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B; Leslie, Joseph S; Ubeyratna, Nishanka; Mancini, Grazia M S; Slegtenhorst, Marjon van; Wilke, Martina; Haack, Tobias B; Shamseldin, Hanan E; Gleeson, Joseph G; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S
Academic Journal
Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogoli, Andrea; Zara, Frederico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Melver, Catherine Ward; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Vockley, Catherine Walsh; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L
Brain. 144(12)
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Academic Journal
Tábara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; Courtin, Thomas; Al-Khayat, Aisha; Galedari, Hamid; Mazaheri, Neda; Protasoni, Margherita; Johnson, Mark; Leslie, Joseph S; Salter, Claire G; Rawlins, Lettie E; Fasham, James; Al-Maawali, Almundher; Voutsina, Nikol; Charles, Perrine
Periodical
Best, Sunayna; Yu, Jing; Lord, Jenny; Roche, Matthew; Watson, Christopher Mark; Bevers, Roel P J; Stuckey, Alex; Madhusudhan, Savita; Jewell, Rosalyn; Sisodiya, Sanjay M; Lin, Siying; Turner, Stephen; Robinson, Hannah; Leslie, Joseph S; Baple, Emma; Toomes, Carmel; Inglehearn, Chris; Wheway, Gabrielle; Johnson, Colin A
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 12 p1151-1164, 14p
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[AR] Leslie, Joseph S
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