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

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

基因组和转录组测序在先天性免疫缺陷诊断中的应用:一种可行的多组学诊断方法

Rozevska, Marija; Daila Neiburga-Vigante, Katrina; Nartisa, Inga; Lucane, Zane; Ozola, Lota; Bardina, Livija; Jaunalksne, Inta; Gerula, Natalija; Krike, Petra; Taurina, Gita; Nokalna-Spale, Ieva; Micule, Ieva; Vilne, Baiba; Kisand, Kai; Pajusalu, Sander; Gailite, Linda; Rots, Dmitrijs; Kurjane, Natalja

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

Association of Baseline Lipopolysaccharide-Binding Protein with Expanded Disability Status Score Dynamics in Patients with Relapsing-Remitting Multiple Sclerosis: A Pilot Study

基线脂多糖结合蛋白与复发缓解型多发性硬化症患者扩展残疾状态评分动态变化的相关性:一项初步研究

Vilmane, Anda; Kolesova, Oksana; Nora-Krukle, Zaiga; Kolesovs, Aleksandrs; Pastare, Daina; Jaunozolina, Liga; Kande, Linda; Egle, Jelena; Kromane, Daniela; Micule, Madara; Liepina, Sintija; Zeltina, Estere; Gravelsina, Sabine; Rasa-Dzelzkaleja, Santa; Viksna, Ludmila; Karelis, Guntis

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 most common European HINT1 neuropathy variant phenotype and its case studies

欧洲最常见的HINT1神经病变变异表型及其病例研究

Rozevska, Marija; Rots, Dmitrijs; Gailite, Linda; Linde, Ronalds; Mironovs, Stanislavs; Timcenko, Maksims; Linovs, Viktors; Locmele, Dzintra; Micule, Ieva; Lace, Baiba; Kenina, Viktorija

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms

科内莉亚·德·兰格综合征及相关诊断的基因组分析:新的候选基因、基因型-表型相关性和共同机制

Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan J; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad Abou; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris A; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela H; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne M; Bruegger, Daniel; Ch'ng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald F; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John M Jr; Gripp, Karen W; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert J; Jones, Kenneth L; Jones, Marilyn C; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally Ann; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia M; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan F; Sangha, Karan; Scheuerle, Angela E; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia G; White, Susan M; Young, Terri; Loomes, Kathleen M; Pipan, Mary; Harrington, Ann Tokay; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew A; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie D; Izumi, Kosuke; Raible, Sarah E; Krantz, Ian D

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study

新生儿脊髓性肌萎缩症筛查:拉脱维亚试点研究结果

Gailite, Linda; Sterna, Olga; Konika, Maija; Isakovs, Aleksejs; Isakova, Jekaterina; Micule, Ieva; Setlere, Signe; Diriks, Mikus; Auzenbaha, Madara

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

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