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Neurogenetics|May 31, 2025
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosisAslihan Kiraz, Murat Erdogan, Burhan Balta, et al.Journal of Human Genetics|October 2, 2015
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 geneFatih Bayrakli, Hatice Gamze Poyrazoglu, Sirin Yuksel, et al.European Journal of Pediatrics|August 6, 2021
Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC studySema Bozkaya-Yilmaz, Eda Karadag-Oncel, Nihal Olgac-Dundar, et al.Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.Pageof 5