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

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma

拉脱维亚原发性先天性青光眼患者队列中CYP1B1及其他前节发育不良相关基因的遗传分析

Elksne, Eva; Lace, Baiba; Stavusis, Janis; Tvoronovica, Anastasija; Zayakin, Pawel; Elksnis, Eriks; Ozolins, Arturs; Micule, Ieva; Valeina, Sandra; Inashkina, Inna

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report

线粒体心肌病伴骨骼肌病,由MT-TL1基因m.3260A>G突变引起:病例报告

Kadiša, Anda; Vereskuns, Ritvars; Tarasovs, Mihails; Mičule, Ieva; Inashkina, Inna

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease

拉脱维亚一个患有达农病的多代家族中LAMP2基因剪接异常

Stavusis, Janis; Micule, Ieva; Grinfelde, Ieva; Zdanovica, Anna; Pudulis, Janis; Valeina, Sandra; Sepetiene, Svetlana; Lace, Baiba; Inashkina, Inna

The phenotypic spectrum of PTCD3 deficiency

PTCD3缺陷的表型谱

Lace, Baiba; Faqeih, Eissa; Kaya, Namik; Krumina, Zita; Mayr, Johannes A; Micule, Ieva; Wright, Nathan Thompson; Achleitner, Melanie T; AlQudairy, Hanan; Pajusalu, Sander; Stavusis, Janis; Zayakin, Pawel; Inashkina, Inna

The Price of Human Evolution: Cancer-Testis Antigens, the Decline in Male Fertility and the Increase in Cancer

人类进化的代价:睾丸癌抗原、男性生育能力下降和癌症发病率上升

Erenpreisa, Jekaterina; Vainshelbaum, Ninel Miriam; Lazovska, Marija; Karklins, Roberts; Salmina, Kristine; Zayakin, Pawel; Rumnieks, Felikss; Inashkina, Inna; Pjanova, Dace; Erenpreiss, Juris

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

拉脱维亚人群神经肌肉疾病分子诊断经验概述

Lace, Baiba; Micule, Ieva; Kenina, Viktorija; Setlere, Signe; Strautmanis, Jurgis; Kazaine, Inese; Taurina, Gita; Murmane, Daiga; Grinfelde, Ieva; Kornejeva, Liene; Krumina, Zita; Sterna, Olga; Radovica-Spalvina, Ilze; Vasiljeva, Inta; Gailite, Linda; Stavusis, Janis; Livcane, Diana; Kidere, Dita; Malniece, Ieva; Inashkina, Inna

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study

单基因遗传与多基因遗传在孤立性腭裂发生发展中的比较:一项全基因组测序研究

Lace, Baiba; Pajusalu, Sander; Livcane, Diana; Grinfelde, Ieva; Akota, Ilze; Mauliņa, Ieva; Barkāne, Biruta; Stavusis, Janis; Inashkina, Inna

Case Report: Two Families With HPDL Related Neurodegeneration

病例报告:两例与HPDL相关的神经退行性疾病

Micule, Ieva; Lace, Baiba; Wright, Nathan T; Chrestian, Nicolas; Strautmanis, Jurgis; Diriks, Mikus; Stavusis, Janis; Kidere, Dita; Kleina, Elfa; Zdanovica, Anna; Laflamme, Nataly; Rioux, Nadie; Setty, Samarth Thonta; Pajusalu, Sander; Droit, Arnaud; Lek, Monkol; Rivest, Serge; Inashkina, Inna

DNA methylation of the Oct4A enhancers in embryonal carcinoma cells after etoposide treatment is associated with alternative splicing and altered pluripotency in reversibly senescent cells

依托泊苷治疗后,胚胎癌细胞中 Oct4A 增强子的 DNA 甲基化与可逆衰老细胞的替代剪接和多能性改变相关。

Baryshev, Mikhail; Inashkina, Inna; Salmina, Kristine; Huna, Anda; Jackson, Thomas R; Erenpreisa, Jekaterina

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

用于常染色体隐性肢带型肌营养不良症的可靠基因分型工具

Inashkina, Inna; Jankevics, Eriks; Stavusis, Janis; Vasiljeva, Inta; Viksne, Kristine; Micule, Ieva; Strautmanis, Jurgis; Naudina, Maruta S; Cimbalistiene, Loreta; Kucinskas, Vaidutis; Krumina, Astrida; Utkus, Algirdas; Burnyte, Birute; Matuleviciene, Ausra; Lace, Baiba