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Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Yaramis, Aysenur"

Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Yaramis, Aysenur"

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  • Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz (Lippincott Williams & Wilkins, 2020)
    OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome ...

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