日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Reduced serum sestrin 2 levels in Hashimoto's disease: a cross-sectional study on a potential pathophysiological and diagnostic role

桥本氏病患者血清雌激素受体2水平降低:一项关于其潜在病理生理和诊断作用的横断面研究

Ates, Merve; Ates, Mesut; Alisik, Murat; Yis, Ozgur Mehmet

Phenotypic variability in cases with CACNA1A mutation

CACNA1A突变病例的表型变异性

Bozkaya-Yilmaz, Sema; Olgac-Dundar, Nihal; Aliyeva, Nargiz; Ersen, Atilla; Gencpinar, Pinar; Gungor, Mesut; Hiz, Ayse Semra; Yis, Uluc; Sarikaya-Uzan, Gamze; Sarigecili, Esra; Kirik, Serkan; Erol, Ilknur; Besen, Seyda; Kayilioglu, Hulya; Haspolat, Senay; Kipoglu, Osman; Ekici, Arzu; Turay, Sevim; Tosun, Ayse; Ayanoglu, Muge; Danis, Aysegul; Hancı, Fatma; Kutbay, Yasar Bekir; Ozyilmaz, Berk; Kara, Bulent

Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study

对诊断为脑桥小脑发育不全的患者进行评估:一项多中心全国性研究

Cavusoglu, Dilek; Ozturk, Gulten; Turkdogan, Dilsad; Kurul, Semra Hiz; Yis, Uluc; Komur, Mustafa; Incecik, Faruk; Kara, Bulent; Sahin, Turkan; Unver, Olcay; Dilber, Cengiz; Mert, Gulen Gul; Gunay, Cagatay; Uzan, Gamze Sarikaya; Ersoy, Ozlem; Oktay, Yavuz; Mermer, Serdar; Tuncer, Gokcen Oz; Gungor, Olcay; Ozcora, Gul Demet Kaya; Gumus, Ugur; Sezer, Ozlem; Cetin, Gokhan Ozan; Demir, Fatma; Yilmaz, Arzu; Gurbuz, Gurkan; Topcu, Meral; Topaloglu, Haluk; Ceylan, Ahmet Cevdet; Ceylaner, Serdar; Gleeson, Joseph G; Icagasioglu, Dilara Fusun; Sonmez, F Mujgan

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

近亲结婚家庭中,三重外显子组测序对神经遗传疾病的诊断率很高。

Hiz Kurul, Semra; Oktay, Yavuz; Töpf, Ana; Szabó, Nóra Zs; Güngör, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, İpek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Özgör, Bilge; Lochmüller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Müller, Juliane S; Hathazi, Denisa; Chinnery, Patrick F; Laurie, Steven; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

NDUFA12基因双等位基因功能丧失变异导致广泛的表型谱,从Leigh/Leigh样综合征到孤立性视神经萎缩。

Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Juliana Maria Ferraz; Zaki, Maha S; Kok, Fernando; Bhatia, Kailash P; Wissinger, Bernd; Sergeant, Kate; Haack, Tobias B; Horvath, Rita; Hiz, Semra; Alkuraya, Fowzan S; Houlden, Henry; Pedroso, José Luiz; Maroofian, Reza

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

TUBGCP2基因的常染色体隐性变异会改变γ-微管蛋白环复合物,导致神经发育疾病。

Gungor, Serdal; Oktay, Yavuz; Hiz, Semra; Aranguren-Ibáñez, Álvaro; Kalafatcilar, Ipek; Yaramis, Ahmet; Karaca, Ezgi; Yis, Uluc; Sonmezler, Ece; Ekinci, Burcu; Aslan, Mahmut; Yilmaz, Elmasnur; Özgör, Bilge; Balaraju, Sunitha; Szabo, Nora; Laurie, Steven; Beltran, Sergi; MacArthur, Daniel G; Hathazi, Denisa; Töpf, Ana; Roos, Andreas; Lochmuller, Hanns; Vernos, Isabelle; Horvath, Rita

Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner

先天性肌无力综合征相关的 agrin 变体以领域特异性的方式影响乙酰胆碱受体的聚集

Bisei Ohkawara, XinMing Shen, Duygu Selcen, Mohammad Nazim, Vera Bril, Mark A Tarnopolsky, Lauren Brady, Sae Fukami, Anthony A Amato, Uluc Yis, Kinji Ohno, Andrew G Engel

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

由纯合TLK2变异引起的严重神经发育疾病

Töpf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven; Thompson, Rachel; Roos, Andreas; MacArthur, Daniel G; Yaramis, Ahmet; Güngör, Serdal; Lochmüller, Hanns; Hiz, Semra; Horvath, Rita

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

两名土耳其儿童患有与COL4A1相关的常染色体隐性遗传性脑病

Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Ipek Polat, Ayse; Edem, Pinar; Beltran, Sergi; Laurie, Steven; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

在另外两个家族中证实TACO1是莱氏综合征的致病基因

Oktay, Yavuz; Güngör, Serdal; Zeltner, Lena; Wiethoff, Sarah; Schöls, Ludger; Sonmezler, Ece; Yilmaz, Elmasnur; Munro, Benjamin; Bender, Benjamin; Kernstock, Christoph; Kaemereit, Sofie; Liepelt, Inga; Töpf, Ana; Yis, Uluc; Laurie, Steven; Yaramis, Ahmet; Zuchner, Stephan; Hiz, Semra; Lochmüller, Hanns; Schüle, Rebecca; Horvath, Rita