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

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

Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling

m.13513G>A 变异对 OXPHOS 系统功能和细胞逆向信号传导的影响

Dita Kidere, Pawel Zayakin, Diana Livcane, Marina Makrecka-Kuka, Janis Stavusis, Baiba Lace, Tsu-Kung Lin, Chia-Wei Liou, Inna Inashkina

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

Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor

肌节缺陷是 MYBPC1 相关肌病和肌源性震颤的病因

Janelle Geist Hauserman, Janis Stavusis, Humberto C Joca, Joel C Robinett, Laurin Hanft, Jack Vandermeulen, Runchen Zhao, Joseph P Stains, Konstantinos Konstantopoulos, Kerry S McDonald, Christopher Ward, Aikaterini Kontrogianni-Konstantopoulos

Sarcomeric myopathies associated with tremor: new insights and perspectives

与震颤相关的肌节性肌病:新的见解和视角

Stavusis, Janis; Geist, Janelle; Kontrogianni-Konstantopoulos, Aikaterini

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

MYBPC1 的新突变与肌源性震颤和轻度肌病有关

Janis Stavusis, Baiba Lace, Jochen Schäfer, Janelle Geist, Inna Inashkina, Dita Kidere, Sander Pajusalu, Nathan T Wright, Annika Saak, Manja Weinhold, Dietrich Haubenberger, Sandra Jackson, Aikaterini Kontrogianni-Konstantopoulos, Carsten G Bönnemann