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KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature Yoganathan, Sangeetha; Whitney, Robyn; Thomas, Maya; Danda, Sumita; Chettali, Akbar Mohamed; Prasad, Asuri N.; Farhan, Sali M. K.; Alsowat, Daad; Abukhaled, Musaad; Aldhalaan, Hesham; Gowda, Vykuntaraju K.; Kinhal, Uddhava V.; Bylappa, Arun Y.; Konanki, Ramesh; Lingappa, Lokesh; Parchuri, Bindu Madhavi; Appendino, Juan P.; Scantlebury, Morris H.; Cunningham, Jessie; Hadjinicolaou, Aristides; El Achkar, Christelle Moufawad; Kamate, Mahesh; Menon, Ramshekhar N.; Jose, Manna; Riordan, Gillian; Kannan, Lakshminarayanan; Jain, Vivek; Manokaran, Ranjith Kumar; Chau, Vann; Donner, Elizabeth J.; Costain, Gregory; Minassian, Berge A.; Jain, Puneet Share Save
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Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies Accogli, Andrea; Zaki, Maha S.; Al-Owain, Mohammed; Otaif, Mansour Y.; Jackson, Adam; Argilli, Emanuela; Chandler, Kate E.; De Goede, Christian G. E. L.; Cora, Tulun; Alvi, Javeria Raza; Eslahi, Atieh; Mohajeri, Mahsa Sadat Asl; Ashtiani, Setareh; Au, P. Y. Billie; Scocchia, Alicia; Alakurtti, Kirsi; Pagnamenta, Alistair T.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Mojarrad, Majid; Arab, Fatemeh; Duymus, Fahrettin; Scantlebury, Morris H.; Yesil, Gozde; Rosenfeld, Jill Anne; Turkyilmaz, Ayberk; Sager, Safiye Gunes; Sultan, Tipu; Ashrafzadeh, Farah; Zahra, Tatheer; Rahman, Fatima; Maqbool, Shazia; Abdel-Hamid, Mohamed S.; Issa, Mahmoud Y.; Efthymiou, Stephanie; Bauer, Peter; Zifarelli, Giovanni; Salpietro, Vincenzo; Al-Hassnan, Zuhair; Banka, Siddharth; Sherr, Elliot H.; Gleeson, Joseph G.; Striano, Pasquale; Houlden, Henry; Genomics England Res Consortium, Mariasavina; Severino, Mariasavina; Maroofian, Reza Share Save
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