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Bekir Ergüner

Showing results (1-10 of 13) with videos related to

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The Turkish Journal of Pediatrics|April 8, 2020
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish populationMustafa Kılıç, Bekir Ergüner, Can Koşukçu, et al.
Bioinformatics (Oxford, England)|July 20, 2020
Identifying disease-causing mutations with privacy protectionMete Akgün, Ali Burak Ünal, Bekir Ergüner, et al.
Acta Neurologica Belgica|November 16, 2016
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsyYavuz Sahin, Olcay Güngör, Zeliha Gormez, et al.
Journal of Medical Genetics|April 26, 2014
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pairGülşah M Dal, Bekir Ergüner, Mahmut S Sağıroğlu, et al.
The Turkish Journal of Pediatrics|December 5, 2018
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyriaTülay Öncü-Öner, Aycan Ünalp, İlknur Porsuk-Doru, et al.
The Journal of Gene Medicine|February 16, 2021
Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocationsBayram Toraman, Samiye Çilem Bilginer, Selma Tural Hesapçıoğlu, et al.
American Journal of Medical Genetics. Part A|November 7, 2013
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasiaYasemin Alanay, Bekir Ergüner, Eda Utine, et al.
Neuromuscular Disorders : NMD|October 3, 2017
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle diseaseGüldal Inal-Gültekin, Bahar Toptaş-Hekimoğlu, Zeliha Görmez, et al.
Clinical Epigenetics|June 12, 2023
Buffy coat signatures of breast cancer risk in a prospective cohort studyFelicia Fei-Lei Chung, Sandra González Maldonado, Amelie Nemc, et al.
Nature Communications|January 16, 2023
Comparative analysis of genome-scale, base-resolution DNA methylation profiles across 580 animal speciesJohanna Klughammer, Daria Romanovskaia, Amelie Nemc, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
The Turkish Journal of Pediatrics|April 8, 2020
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish populationMustafa Kılıç, Bekir Ergüner, Can Koşukçu, et al.
Bioinformatics (Oxford, England)|July 20, 2020
Identifying disease-causing mutations with privacy protectionMete Akgün, Ali Burak Ünal, Bekir Ergüner, et al.
Acta Neurologica Belgica|November 16, 2016
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsyYavuz Sahin, Olcay Güngör, Zeliha Gormez, et al.
Journal of Medical Genetics|April 26, 2014
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pairGülşah M Dal, Bekir Ergüner, Mahmut S Sağıroğlu, et al.
The Turkish Journal of Pediatrics|December 5, 2018
GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyriaTülay Öncü-Öner, Aycan Ünalp, İlknur Porsuk-Doru, et al.
The Journal of Gene Medicine|February 16, 2021
Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocationsBayram Toraman, Samiye Çilem Bilginer, Selma Tural Hesapçıoğlu, et al.
American Journal of Medical Genetics. Part A|November 7, 2013
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasiaYasemin Alanay, Bekir Ergüner, Eda Utine, et al.
Neuromuscular Disorders : NMD|October 3, 2017
Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle diseaseGüldal Inal-Gültekin, Bahar Toptaş-Hekimoğlu, Zeliha Görmez, et al.
Clinical Epigenetics|June 12, 2023
Buffy coat signatures of breast cancer risk in a prospective cohort studyFelicia Fei-Lei Chung, Sandra González Maldonado, Amelie Nemc, et al.
Nature Communications|January 16, 2023
Comparative analysis of genome-scale, base-resolution DNA methylation profiles across 580 animal speciesJohanna Klughammer, Daria Romanovskaia, Amelie Nemc, et al.
Pageof 2