Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases RESEARCH The neuropsychological phenotype of Chediak-Higashi disease Talia N. Shirazi, Joseph Snow, Lillian Ham, Greta B. Raglan, Edythe A. Wiggs, Angela C. Summers, Camilo Toro and Wendy J. Introne Orphanet Journal of Rare Diseases 2019, 14:101 | Published on: 6 May 2019 Full Text | PDF RESEARCH Late-onset thymidine kinase 2 deficiency: a review of 18 cases Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi… Orphanet Journal of Rare Diseases 2019, 14:100 | Published on: 6 May 2019 Full Text | PDF

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