Moleküler Biyoloji ve Genetik

Medinas, D.B., Malik, S., Yıldız Bölükbaşı, E., et.al., "Mutation in Protein Disulfide İsomerase A3 Causes Neurodevelopmental Defects by Disturbing Endoplasmic Reticulum Proteostasis", The EMBO Journal, 41, 2, 105531, 2022.

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Candayan, A., Parman, Y., Battaloğlu, E., "Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages", Balkan Med J, 25-39, 1, 3-11, 2022.

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Somuncu, B., Ekmekçioğlu, A., Antmen, F.M., Ertuzun, T., Deniz, E., Keskin, N., Park, J., Yazıcı, I.E., Şimşek, B., Erman, B., Yin, W., Erman, B., Müftüoğlu, M., "Targeting Mitochondrial DNA Polymerase Gamma for Selective Inhibition of MLH1 Deficient Colon Cancer Growth", Plos One, 2022.

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Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J. F. A. van Vugt, Paul J. Hop, Ramona A. J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilis Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark Doherty, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Jan H. Veldink, " Common and Rare Variant Association Analyses in Amyotrophic Lateral Sclerosis Identify 15 risk Loci with Distinct Genetic Architectures and Neuron-specific Biology", Nature Genetics, 53, 1636–1648, 2022.

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Çakar, A., İnci, M., Özdağ Acarlı, A.N., Çomu, S., Candayan, A., Battaloğlu, E., Tekgül, Ş., Başak, A.N., Durmuş, H., Parman, Y., "Phenotypical Spectrum of SACS Variants: Neuromuscular Perspective of a Complex Neurodegenerative Disorder", Acta Neurol Scand, 145, 5, 619-626, 2022.

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Hareth Nahi 1 2, Michael Chrobok 1, Stephan Meinke 1, Charlotte Gran 1 3, Nicole Marquardt 4, Gabriel Afram 1 2, Tolga Sutlu 1, Mari Gilljam 1, Birgitta Stellan 1, Arnika K Wagner 1, Pontus Blomberg 5 6, Per-Henrik Holmqvist 6, Lilian Walther-Jallow 7, Karin Mellström 8, Johan Liwing 8, Charlotte Gustafsson 9, Robert Månsson 9, Monika Klimkowska 10 11, Gösta Gahrton 1, Johan Lund 1 2, Per Ljungman 12 13, Hans-Gustaf Ljunggren 4, Evren Alici 1"Autologous NK Cells as Consolidation Therapy Following Stem Cell Transplantation in Multiple Myeloma", Cell Rep Med, 3, 2, 100508, 2022.

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