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Browsing by Subject Rare diseases
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Showing results 11 to 26 of 26
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Issue Date
Title
Author(s)
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
2022
Rare diseases and orphan medicines : knowledge and perceptions of healthcare professionals and the public
Vassallo, Sharon
;
Attard Pizzuto, Maresca
;
Azzopardi, Lilian M.
;
Serracino-Inglott, Anthony
2019
Testicular germ-cell tumours and penile squamous cell carcinoma : appropriate management makes the difference
Nicolai, Nicola
;
Biasoni, Davide
;
Catanzaro, Mario A.
;
Colecchia, Maurizio
;
Trama, Annalisa
;
Calleja, Neville
2023
‘They are rare, but they are there’. Report from the gynocare training school in Sofia, Bulgaria (29th June - 1st July 2023)
Calleja-Agius, Jean
;
Vasileva-Slaveva, Mariela
2019
Treatment challenges in and outside a network setting : head and neck cancers
Orlandi, Ester
;
Alfieri, Salvatore
;
Simon, Christian
;
Trama, Annalisa
;
Licitra, Lisa
;
Calleja, Neville
2019
Treatment challenges in and outside a specialist network setting : pancreatic neuroendocrine tumours
Lykoudis, Panagis M.
;
Partelli, Stefano
;
Muffatti, Francesca
;
Caplin, Martyn
;
Falconi, Massimo
;
Fusai, Giuseppe K.
;
Calleja, Neville
1969
Tubo ovarian abscess as a complication of typhoid fever
Vassallo, Luis A.
;
Attard, Raphael