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

Surgical management of delayed mucosal cyst after rhinoplasty: a case report

鼻整形术后迟发性黏膜囊肿的手术治疗:病例报告

Kubilay, Utku; Yaramis, Huseyin Berk

Monoclonal antibody generated against Nile tilapia (Oreochromis niloticus) IgT heavy chain using a peptide-based strategy

使用基于肽的策略产生针对尼罗罗非鱼 (Oreochromis niloticus) IgT 重链的单克隆抗体

Janet Velázquez, Lynn Cruz, Maylin Pérez-Bernal, Onel Valdivia, Arlette Haidar, Alianet Rodríguez, Fidel Herrera, Osmany González, Antonio Morales, Lisbet Ulloa, Reinaldo Blanco, Joel Pérez, Dayamí Dorta, Yaramis Luna, Hilda Elisa Garay, David Diago Abreu, Yassel Ramos, Vladimir Besada, Yeosvany Cab

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

Corrigendum: Genotype-phenotype correlations within the Geodermatophilaceae

更正:地皮菌科内的基因型-表型相关性

Montero-Calasanz, Maria Del Carmen; Yaramis, Adnan; Rohde, Manfred; Schumann, Peter; Klenk, Hans-Peter; Meier-Kolthoff, Jan P

Genotype-phenotype correlations within the Geodermatophilaceae

Geodermatophilaceae科内的基因型-表型相关性

Montero-Calasanz, Maria Del Carmen; Yaramis, Adnan; Rohde, Manfred; Schumann, Peter; Klenk, Hans-Peter; Meier-Kolthoff, Jan P

Murine monoclonal antibodies against RBD of the SARS-CoV-2 spike protein as useful analytical tools for subunit vaccine development and clinical trials

针对 SARS-CoV-2 刺突蛋白 RBD 的鼠单克隆抗体可作为亚单位疫苗开发和临床试验的有用分析工具

Omar R Blanco, Dayamí Dorta, Carlos A Hernández, Daymí Abreu, Andy G Domínguez, Yaramis Luna, Onel Valdivia, Maylín Pérez-Bernal, Celia Tamayo, Gilda Lemos, Ivis M Pasarón, Joel J Pérez, Liudmila Benítez, Mónica Bequet-Romero, Anitza Fragas, Yeosvany Cabrera, Enrique R Pérez

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

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