A giant arteriovenous malformation and fistula in a newborn with Parkes Weber syndrome. Case report

by Luize Auzina, Elina Skuja, Toms Janis Safranovs, Valts Ozolins, Helmuts Kidikas, Gita Taurina, Inguna Lubaua
Published 2020-12-01

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

by Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite
Published 2021-06-01

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

by Elina Millere, Elina Millere, Elina Millere, Dmitrijs Rots, Ieva Glazere, Ieva Glazere, Gita Taurina, Natalja Kurjane, Natalja Kurjane, Viktorija Priedite, Linda Gailite, Kaj Blennow, Kaj Blennow, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Henrik Zetterberg, Viktorija Kenina, Viktorija Kenina
Published 2021-01-01

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

by Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
Published 2021-03-01