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

Case Report: Severe hypertriglyceridaemia and multivessel coronary artery disease - management and plaque characteristics

病例报告:严重高甘油三酯血症和多支冠状动脉疾病——治疗及斑块特征

Kokina, Baiba; Lapsovs, Maris; Roze, Rudolfs; Lace, Baiba; Erglis, Andrejs; Trusinskis, Karlis

Genetic counselling legislation and practice in cancer in EU Member States

欧盟成员国癌症遗传咨询立法和实践

McCrary, J Matt; Van Valckenborgh, Els; Poirel, Hélène A; de Putter, Robin; van Rooij, Jeroen; Horgan, Denis; Dierks, Marie-Luise; Antonova, Olga; Brunet, Joan; Chirita-Emandi, Adela; Colas, Chrystelle; Dalmas, Miriam; Ehrencrona, Hans; Grima, Claire; Janavičius, Ramūnas; Klink, Barbara; Koczok, Katalin; Krajc, Mateja; Lace, Baiba; Leitsalu, Liis; Mistrik, Martin; Paneque, Milena; Primorac, Dragan; Roetzer, Katharina M; Ronez, Joelle; Slámová, Lucie; Spanou, Elena; Stamatopoulos, Kostas; Stoklosa, Tomasz; Strang-Karlsson, Sonja; Szakszon, Katalin; Szczałuba, Krzysztof; Turner, Jacqueline; van Dooren, Marieke F; van Zelst-Stams, Wendy A G; Vassallo, Loredana-Maria; Wadt, Karin A W; Žigman, Tamara; Ripperger, Tim; Genuardi, Maurizio; Van den Bulcke, Marc; Bergmann, Anke Katharina

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 recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

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

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