Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

por Rokaitė, Rūta, Traberg, Rasa, Dženkaitis, Mindaugas, Kučinskienė, Rūta, Labanauskas, Liutauras
Publicado 2020

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

por Cappato, Serena, Traberg, Rasa, Gintautiene, Jolita, Zara, Federico, Bocciardi, Renata
Publicado 2021

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

por Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia
Publicado 2020

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

por Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre
Publicado 2021