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1 Ergebnisse
1
Lunapark deficiency leads to an autosomal recessive neurode..:
Accogli, Andrea
;
Zaki, Maha S
;
Al-Owain, Mohammed
...
qt77b7h8nj. , 2023
Link:
https://escholarship.org/uc/item/77b7h8nj
RT Journal T1
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt77b7h8nj&Exemplar=1&LAN=DE A1 Accogli, Andrea A1 Zaki, Maha S A1 Al-Owain, Mohammed A1 Otaif, Mansour Y A1 Jackson, Adam A1 Argilli, Emanuela A1 Chandler, Kate E A1 De Goede, Christian GEL A1 Cora, Tülün A1 Alvi, Javeria Raza A1 Eslahi, Atieh A1 Asl Mohajeri, Mahsa Sadat A1 Ashtiani, Setareh A1 Au, PY Billie A1 Scocchia, Alicia A1 Alakurtti, Kirsi A1 Pagnamenta, Alistair T A1 Toosi, Mehran Beiraghi A1 Ghayoor Karimiani, Ehsan A1 Mojarrad, Majid A1 Arab, Fatemeh A1 Duymuş, Fahrettin A1 Scantlebury, Morris H A1 Yeşil, Gözde A1 Rosenfeld, Jill Anne A1 Türkyılmaz, Ayberk A1 Sağer, Safiye Güneş A1 Sultan, Tipu A1 Ashrafzadeh, Farah A1 Zahra, Tatheer A1 Rahman, Fatima A1 Maqbool, Shazia A1 Abdel-Hamid, Mohamed S A1 Issa, Mahmoud A1 Efthymiou, Stephanie A1 Bauer, Peter A1 Zifarelli, Giovanni A1 Salpietro, Vincenzo A1 Al-Hassnan, Zuhair A1 Banka, Siddharth A1 Sherr, Elliot H A1 Gleeson, Joseph G A1 Striano, Pasquale A1 Houlden, Henry A1 Severino, Mariasavina A1 Maroofian, Reza PB eScholarship, University of California YR 2023 K1 Pediatric K1 Neurosciences K1 Genetics K1 Neurodegenerative K1 Clinical Research K1 Congenital Structural Anomalies K1 Brain Disorders K1 Rare Diseases K1 Human Genome K1 Epilepsy K1 2.1 Biological and endogenous factors K1 Aetiology K1 Mental health K1 Neurological K1 Clinical sciences K1 Biological psychology JF qt77b7h8nj LK http://dx.doi.org/https://escholarship.org/uc/item/77b7h8nj DO https://escholarship.org/uc/item/77b7h8nj SF ELIB - SuUB Bremen
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