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Showing 729 - 741 of 3,483

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  • Phenogenon: Gene to phenotype associations for rare genetic diseases

    Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, UK Inherited Retinal Dystrophy Consortium, Phenopolis Consortium

    published 09 Apr 2020

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  • Rare disease in Malaysia: Challenges and solutions

    Asrul Akmal Shafie, Azuwana Supian, Mohamed Azmi Ahmad Hassali, Lock-Hock Ngu, Meow-Keong Thong, Hatijah Ayob, Nathorn Chaiyakunapruk

    published 02 Apr 2020

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  • Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

    Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D’Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A. Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri

    published 23 Mar 2020

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