Yazar "Öztoprak, Ülkühan" için listeleme
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Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation
Yayıcı Köken, Özlem; Öztoprak, Ülkühan; Topçu, Vehap; Kayılıoğlu, Hülya (ASEAN NEUROLOGICAL ASSOC, 2021)Autosomal recessive intermediate Charcot Marie Tooth (CMT) disease type C is a very rarely-seen neurogenetic disorder. Homozygous or compound heterozygous mutation in the Pleckstrin homology domain-containing family G ...
