Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet

por Wilke, Matheus V., de Souza, Carolina Fischinger Moura, Giugliani, Roberto, Schwartz, Ida V.
Publicado 2021

Two different presentations of de novo variants of CSNK2B: two case reports

por Wilke, Matheus V. M. B, Oliveira, Bibiana M., Pereira, Alessandra, Doriqui, Maria Juliana R., Kok, Fernando, Souza, Carolina F. M.
Publicado 2022

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

por Wilke, Matheus V. M. B., Dornelles, Alícia D., Schuh, Artur S., Vairo, Filippo P., Basgalupp, Suelen P., Siebert, Marina, Nalin, Tatiele, Piltcher, Otavio B., Schwartz, Ida V. D.
Publicado 2019

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

por Wilke, Matheus V. M. B., Morava-Kozicz, Eva, Koster, Matthew J., Schmitz, Christopher T., Foster, Shannon Kaye, Patnaik, Mrinal, Warrington, Kenneth J., Klee, Eric W., Pinto e Vairo, Filippo
Publicado 2022

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

por Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, de Souza, Carolina Moura Fischinger, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto
Publicado 2022