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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: albuz b. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J, Silan F, Bir FD, Silan C, Albuz B, Ozdemir O. Velickovic J, et al. Among authors: albuz b. Autoimmunity. 2019 Nov-Dec;52(7-8):256-263. doi: 10.1080/08916934.2019.1671375. Epub 2019 Sep 26. Autoimmunity. 2019. PMID: 31556326 Free article.
A Novel Perspective to Gamma-Knife Radiosurgery for Solitary Meningiomas: Adaptability of Fast Imaging Employing Steady-State Acquisition/Constructive Interference in Steady-State Magnetic Resonance Imaging.
Dere UA, Egemen E, Yakar F, Asar R, Albuz B, Civlan S, Bakirarar B, Sagtas E, Acar F, Coskun ME. Dere UA, et al. Among authors: albuz b. Turk Neurosurg. 2024;34(5):865-871. doi: 10.5137/1019-5149.JTN.44895-23.2. Turk Neurosurg. 2024. PMID: 39087295 Free article.
12 results