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Orphanet Journal of Rare Diseases|November 14, 2018
Applicability and added value of novel methods to improve drug development in rare diseasesMarian Mitroiu, Katrien Oude Rengerink, Caridad Pontes, et al.
Orphanet Journal of Rare Diseases|April 5, 2019
Assessing the criteria for definition of perimembranous ventricular septal defects in light of the search for consensusJustin T Tretter, Vi-Hue Tran, Seth Gray, et al.
Orphanet Journal of Rare Diseases|February 23, 2019
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruisingBradley Power, Carlos R Ferreira, Dong Chen, et al.
Orphanet Journal of Rare Diseases|February 24, 2019
Intertumor heterogeneity in 60 pancreatic neuroendocrine tumors associated with multiple endocrine neoplasia type 1Andreas Selberherr, Oskar Koperek, Philipp Riss, et al.
Orphanet Journal of Rare Diseases|February 28, 2019
FGF23 and its role in X-linked hypophosphatemia-related morbiditySigne Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, et al.
Orphanet Journal of Rare Diseases|February 28, 2019
Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemiaMirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
Orphanet Journal of Rare Diseases|September 20, 2019
Ocular manifestations in Gorlin-Goltz syndromeAntonietta Moramarco, Ehud Himmelblau, Emanuele Miraglia, et al.
Orphanet Journal of Rare Diseases|September 20, 2019
Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohortHeike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, et al.
Orphanet Journal of Rare Diseases|August 21, 2019
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findingsSilene M Silvera-Ruiz, José A Arranz, Johannes Häberle, et al.
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