WOS

Permanent URI for this collectionhttps://hdl.handle.net/11443/932

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Author: search.filters.author.Bilgic, BasarHas files: Yes

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    The COVID-19 from Neurological Overview
    (GALENOS PUBL HOUSE, 2020-01-01) Acar, Turkan; Demirel, Esra Aciman; Afsar, Nazire; Akcali, Aylin; Demir, Gulsen Akman; Alagoz, Aybala Neslihan; Mengi, Tugce Angin; Arsava, Ethem Murat; Ayta, Semih; Bebek, Nerses; Bilgic, Basar; Boz, Cavit; Cakar, Arman; Celebisoy, Nese; Cevik, Mehmet Ugur; Delen, Firuze; Tekce, Hacer Durmus; Ekmekci, Hakan; Elmali, Ayse Deniz; Erdinc, Oguz Osman; Erdogan, Fusun Ferda; Eren, Fettah; Ergun, Ufuk; Parman, Yesim Gulsen; Gumus, Haluk; Algin, Demet Ilhan; Karabudak, Rana; Karadas, Omer; Yildiz, Ozlem Kayim; Koc, Emine Rabia; Adapinar, Demet Ozbabalik; Ozdemir, Atilla Ozcan; Ozturk, Serefnur; Kocaman, Ayse Sagduyu; Sahin, Sevki; Topcuoglu, Esen Saka; Sener, Ozden; Tezer, F. Irsel; Togrol, Rifat Erdem; Tokcaer, Ayse Bora; Topcuoglu, Mehmet Akif; Tuncer, Nese; Uca, Ali Ulvi; Uluc, Kayihan; Yaka, Erdem; Yon, Mehmet Ilker
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    COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA
    (ISTANBUL UNIV, FAC MEDICINE, PUBL OFF, 2021-01-01) Salman, Baris; Yucesan, Emrah; Samanci, Bedia; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Ibrahim; Ozbek, Ugur; Ugur Iseri, Sibel
    Objective: To explore the underlying genetic variations and mechanisms in a family affected by isolated dystonia. Material and Method: We employed whole genome Single Nu-cleotide Polymorphism (SNP) based linkage analysis along with whole exome sequencing (WES) in a consanguineous family pre -senting with isolated dystonia. An in-house pipeline compiled for WES analysis along with in-depth in silico prediction algo-rithms were used to assess the associated data produced in this study. Sanger sequencing was used for variant confirmation and segregation. Results: Data analysis included locus oriented WES variant prior-itization and cryptic splicing predictions. We detected a homo-zygous and synonymous variation rs748449895 (NM\_015125.4: c.4143C>T