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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
- Authors :
- Genetica Sectie Genoomdiagnostiek
Child Health
Genetica Klinische Genetica
Circulatory Health
Almousa, Hashem
Lewis, Sara A.
Bakhtiari, Somayeh
Nordlie, Sandra Hinz
Pagnozzi, Alex
Magee, Helen
Efthymiou, Stephanie
Heim, Jennifer A.
Cornejo, Patricia
Zaki, Maha S.
Anwar, Najwa
Maqbool, Shazia
Rahman, Fatima
Neilson, Derek E.
Vemuri, Anusha
Jin, Sheng Chih
Yang, Xiao Ru
Heidari, Abolfazl
Van Gassen, Koen
Trimouille, Aurélien
Thauvin-Robinet, Christel
Liu, James
Bruel, Ange Line
Tomoum, Hoda
Shata, Mennatallah O.
Hashem, Mais O.
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Yeşil, Gözde
Lingappa, Lokesh
Baruah, Debangana
Ebrahimzadeh, Farnoosh
Van-Gils, Julien
Faivre, Laurence
Zamani, Mina
Galehdari, Hamid
Sadeghian, Saeid
Shariati, Gholamreza
Mohammad, Rahema
Van Der Smagt, Jasper
Qari, Alya
Vincent, John B.
Innes, A. Micheil
Dursun, Ali
Özgül, R. Köksal
Akar, Halil Tuna
Bilguvar, Kaya
Mignot, Cyril
Keren, Boris
Raveli, Claudia
Burglen, Lydie
Afenjar, Alexandra
Kaat, Laura Donker
Van Slegtenhorst, Marjon
Alkuraya, Fowzan
Houlden, Henry
Padilla-Lopez, Sergio
Maroofian, Reza
Sacher, Michael
Kruer, Michael C.
Genetica Sectie Genoomdiagnostiek
Child Health
Genetica Klinische Genetica
Circulatory Health
Almousa, Hashem
Lewis, Sara A.
Bakhtiari, Somayeh
Nordlie, Sandra Hinz
Pagnozzi, Alex
Magee, Helen
Efthymiou, Stephanie
Heim, Jennifer A.
Cornejo, Patricia
Zaki, Maha S.
Anwar, Najwa
Maqbool, Shazia
Rahman, Fatima
Neilson, Derek E.
Vemuri, Anusha
Jin, Sheng Chih
Yang, Xiao Ru
Heidari, Abolfazl
Van Gassen, Koen
Trimouille, Aurélien
Thauvin-Robinet, Christel
Liu, James
Bruel, Ange Line
Tomoum, Hoda
Shata, Mennatallah O.
Hashem, Mais O.
Toosi, Mehran Beiraghi
Karimiani, Ehsan Ghayoor
Yeşil, Gözde
Lingappa, Lokesh
Baruah, Debangana
Ebrahimzadeh, Farnoosh
Van-Gils, Julien
Faivre, Laurence
Zamani, Mina
Galehdari, Hamid
Sadeghian, Saeid
Shariati, Gholamreza
Mohammad, Rahema
Van Der Smagt, Jasper
Qari, Alya
Vincent, John B.
Innes, A. Micheil
Dursun, Ali
Özgül, R. Köksal
Akar, Halil Tuna
Bilguvar, Kaya
Mignot, Cyril
Keren, Boris
Raveli, Claudia
Burglen, Lydie
Afenjar, Alexandra
Kaat, Laura Donker
Van Slegtenhorst, Marjon
Alkuraya, Fowzan
Houlden, Henry
Padilla-Lopez, Sergio
Maroofian, Reza
Sacher, Michael
Kruer, Michael C.
- Publication Year :
- 2024
Details
- Database :
- OAIster
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1450186332
- Document Type :
- Electronic Resource