Clinical spectrum, molecular and functional analysis of variants in MACF1
Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A.; Everman, David B.; Washington, Camerun; Jones, Julie R.; Sullivan, Jennifer A.; +83 Authors
Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A.; Everman, David B.; Washington, Camerun; Jones, Julie R.; Sullivan, Jennifer A.; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S.; Gleeson, Joseph G.; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M.; Helbig, Ingo; Fitzgerald, Mark P.; Leventer, Richard J.; Grange, Dorothy K.; Argilli, Emanuela; Sherr, Elliott H.; Prakash, Supraja; Neilson, Derek E.; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S.; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B.; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M.; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L.; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J.; Stolerman, Elliot S.; Sanchez-Lara, Pedro A.; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A.; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J.A.; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E.; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M.; Craven, Daniel; Hiatt, Susan M.; van de Pol, Laura A.; D’Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M.; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L.; Slep, Kevin C.; Doherty, Dan; Dobyns, William B.; Mancini, Grazia M.S.;
Clinical spectrum, molecular and functional analysis of variants in MACF1
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