Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population
Moza Khalifa Alkowari(Hamad Medical Corporation), Ramin Badii(Hamad Medical Corporation), Sara Mole(Institute of Child Health), Tawfeg Ben‐Omran(Qatar Airways (Qatar)), Mahmoud F. Elsaid(Weill Cornell Medical College in Qatar), Lars O. Hedin(Princeton University), Sara Hassan(Mayo Clinic)
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