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| Issue Date | Title | Author(s) |
| 2021 | Adenosquamous carcinoma of the uterine cervix – impact of histology on clinical management | Yordanov, Angel; Kostov, Stoyan; Slavchev, Stanislav; Strashilov, Strahil; Konsoulova, Assia; Calleja-Agius, Jean; Di Fiore, Riccardo; Suleiman, Sherif; Kubelac, Paul; Vlad, Catalin; Achimas-Cadariu, Patriciu; Vasileva-Slaveva, Mariela |
| 1973 | Albinism : a case report | Psaila, Angelo J. |
| 2023 | Cannabis for medicinal use in patients with rare diseases | Parovincaka, Jekaterina; Vella Szijj, Janis; Serracino-Inglott, Anthony; Azzopardi, Lilian M. |
| 2020 | Development of a new rare disease registry | Vassallo, Sharon |
| 2019 | Emerging treatments for Leber Hereditary Optic Neuropathy and Retinitis Pigmentosa | Zuccarelli, Marta |
| 2021 | Emerging treatments for Retinitis Pigmentosa | Zuccarelli, Marta; Borg, John-Joseph; Vella Szijj, Janis; Azzopardi, Lilian M.; Serracino-Inglott, Anthony |
| 2023 | Endometrial carcinoma in patients under 40 years of age : insights from the Bulgarian cancer registry | Danchev Yordanov, Angel; Kostov, Stoyan; Kornovski, Yavor; Slavchev, Stanislav; Ivanova, Yonka Yoka; Calleja-Agius, Jean; Di Fiore, Riccardo; Suleiman, Sherif; Piciu, Andra; Hasan, Ihsan; Vasileva-Slaveva, Mariela |
| 2021 | Epithelioid trophoblastic tumour : a case with genetic linkage to a child born over seventeen years prior, successfully treated with surgery and pembrolizumab | Pisani, David; Calleja-Agius, Jean; Di Fiore, Riccardo; O’Leary, John J.; Beirne, James P.; O’Toole, Sharon A.; Felix, Ana; Said-Huntingford, Ian |
| 2015 | The EuroBioBank Network : ten years of hands-on experience of collaborative, transnational biobanking for rare diseases | Mora, Marina; Angelini, Corrado; Bignami, Fabrizia; Bodin, Anne-Mary; Crimi, Marco; Di Donato, Jeanne-Helene; Felice, Alex; Jaeger, Cecile; Karcagi, Veronika; LeCam, Yann; Lynn, Stephen; Meznaric, Marija; Moggio, Maurizio; Monaco, Lucia; Politano, Luisa; Posada De La Paz, Manuel; Saker, Safaa; Schneiderat, Peter; Ensini, Monica; Garavaglia, Barbara; Gurwitz, David; Johnson, Diana; Muntoni, Francesco; Puymirat, Jack; Reza, Mojgan; Voit, Thomas; Baldo, Chiara; Bricarelli, Franca Dagna; Goldwurm, Stefano; Merla, Giuseppe; Renieri, Alessandro; Zatloukal, Kurt; Filocamo, Mirella; Lochmuller, Hanns; Pegoraro, Elena |
| 2022 | Gonadoblastoma : a brief report | Di Fiore, Riccardo; Agius, Andee; Camenzuli, Christian; Suleiman, Sherif; Calleja-Agius, Jean; Savona-Ventura, Charles |
| 2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga, Leslie; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Perez-Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert-Han; Lochmuller, Hanns; Beltran, Sergi; Scerri, Christian A.; RD-Connect Genome-Phenome Analysis Platform; URD-Cat Data Contributors |
| 2021 | (In)Distinctive role of long non-coding RNAs in common and rare ovarian cancers | Sabol, Maja; Calleja-Agius, Jean; Di Fiore, Riccardo; Suleiman, Sherif; Ozcan, Sureyya; Ward, Mark P.; Ozretić, Petar |
| 2021 | Initiating and defining a sustainable project on the example of rare disease therapy | Juchniewicz, Mateusz; Rzempala, Joanna; Skweres-Kuchta, Malgorzata |
| 2018 | Le trombosi venose rare : trombosi venose cerebrali e trombosi splancniche | Riva, Nicoletta; Ageno, W. |
| 2022 | Medicinal cannabis use in rare diseases | Parovincaka, Jekaterina; Vella Szijj, Janis; Serracino-Inglott, Anthony |
| 2021 | An overview of the role of long non-coding RNAs in human choriocarcinoma | Di Fiore, Riccardo; Suleiman, Sherif; Felix, Ana; O’Toole, Sharon A.; O’Leary, John J.; Ward, Mark P.; Beirne, James P.; Sabol, Maja; Ozretić, Petar; Yordanov, Angel; Vasileva-Slaveva, Mariela; Kostov, Stoyan; Nikolova, Margarita; Said-Huntingford, Ian; Ayers, Duncan; Ellul, Bridget; Pentimalli, Francesca; Giordano, Antonio; Calleja-Agius, Jean |
| 2021 | Perception of rare diseases and orphan medicines | Vassallo, Sharon; Attard Pizzuto, Maresca; Serracino-Inglott, Anthony |
| 1970 | Peutz Jeghers syndrome in childhood : report of a case | Jaccarini, Carol J. |
| 2019 | Pharmacological therapy in a rare disease : challenges in the long-term management of granulomatosis with polyangiitis | Sultana, Janet; Azzopardi Muscat, Natasha; Coleiro, Bernard; Grech, Louise; Muscat, Michelle; Santoro, Domenico; Trifirò, Gianluca |
| 2021 | Rare diseases and orphan medicines | Vassallo, Sharon; Attard Pizzuto, Maresca; Serracino-Inglott, Anthony |
