Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)

por Jurčenko, Marija, Auzenbaha, Madara, Mičule, Ieva, Grīnfelde, Ieva, Dzalbs, Aigars, Mālniece, Ieva
Publicado 2022

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy

por Lace, Baiba, Inashkina, Inna, Micule, Ieva, Vasiljeva, Inta, Naudina, Maruta Solvita, Strautmanis, Jurgis, Stavusis, Janis, Jankevics, Eriks
Publicado 2013

Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia

por Katkevica, Arta, Kreile, Madara, Grinfelde, Ieva, Taurina, Gita, Micule, Ieva, Dzivite-Krisane, Iveta, Smite-Laguna, Arta, Malniece, Ieva
Publicado 2021

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

por Gailite, Linda, Sterna, Olga, Konika, Maija, Isakovs, Aleksejs, Isakova, Jekaterina, Micule, Ieva, Setlere, Signe, Diriks, Mikus, Auzenbaha, Madara
Publicado 2022

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease

por Zarina, Agnese, Tolmane, Ieva, Kreile, Madara, Chernushenko, Aleksandrs, Cernevska, Gunta, Pukite, Ieva, Micule, Ieva, Krumina, Zita, Krumina, Astrida, Rozentale, Baiba, Piekuse, Linda
Publicado 2017

The most common European HINT1 neuropathy variant phenotype and its case studies

por Rozevska, Marija, Rots, Dmitrijs, Gailite, Linda, Linde, Ronalds, Mironovs, Stanislavs, Timcenko, Maksims, Linovs, Viktors, Locmele, Dzintra, Micule, Ieva, Lace, Baiba, Kenina, Viktorija
Publicado 2023

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

por 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
Publicado 2016

Case Report: Two Families With HPDL Related Neurodegeneration

por 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
Publicado 2022

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

por 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
Publicado 2022

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

por Zhao, Sen, Zhang, Yuanqiang, Hallgrimsdottir, Sigrun, Zuo, Yuzhi, Li, Xiaoxin, Batkovskyte, Dominyka, Liu, Sen, Lindelöf, Hillevi, Wang, Shengru, Hammarsjö, Anna, Yang, Yang, Ye, Yongyu, Wang, Lianlei, Yan, Zihui, Lin, Jiachen, Yu, Chenxi, Chen, Zefu, Niu, Yuchen, Wang, Huizi, Zhao, Zhi, Liu, Pengfei, Qiu, Guixing, Posey, Jennifer E., Wu, Zhihong, Lupski, James R., Micule, Ieva, Anderlid, Britt-Marie, Voss, Ulrika, Sulander, Dennis, Kuchinskaya, Ekaterina, Nordgren, Ann, Nilsson, Ola, Zhang, Terry Jianguo, Grigelioniene, Giedre, Wu, Nan
Publicado 2022