Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1...

por Roddate, Marija, Tauriņa, Gita, Krutovs, Vladimirs, Rots, Dmitrijs, Kēniņa, Viktorija
Publicado 2023

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience

por Auzenbaha, Madara, Aleksejeva, Elina, Taurina, Gita, Kornejeva, Liene, Kempa, Inga, Svabe, Vija, Gailite, Linda
Publicado 2022

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures

por Čupāne, Tīna Luīze, Dīriks, Mikus, Tauriņa, Gita, Korņejeva, Liene, Gailīte, Linda, Mālniece, Ieva, Auzenbaha, Madara
Publicado 2023

A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report

por Auzina, Luize, Skuja, Elina, Janis Safranovs, Toms, Ozolins, Valts, Kidikas, Helmuts, Taurina, Gita, Lubaua, Inguna
Publicado 2020

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

por Kovale, Sabine, Terauda, Ruta, Millere, Elina, Taurina, Gita, Murmane, Daiga, Isakova, Jekaterina, Kenina, Viktorija, Gailite, Linda
Publicado 2021

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

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

por Millere, Elina, Rots, Dmitrijs, Glazere, Ieva, Taurina, Gita, Kurjane, Natalja, Priedite, Viktorija, Gailite, Linda, Blennow, Kaj, Zetterberg, Henrik, Kenina, Viktorija
Publicado 2021

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

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

por Black, Graeme C., Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P., Van Cauwenbergh, Caroline, Liskova, Petra, Grønskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, João Pedro, Leroux, Dorothée, Cremers, Frans P. M., De Baere, Elfride, Dollfus, Hélène
Publicado 2021