Search Results - "Lau, Lilian P.L."

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective by Dawkins, Hugh J.S., Draghia‐Akli, Ruxandra, Lasko, Paul, Lau, Lilian P.L., Jonker, Anneliene H., Cutillo, Christine M., Rath, Ana, Boycott, Kym M., Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Yann, Hivert, Virginie, Austin, Christopher P.

“…[...]one recent study from Western Australia concluded that in 2010 the state population affected by a limited cohort of only 467 rare diseases represented 2%…”
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Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective by Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.

“…The scale of the “rare disease problem”—thousands of rare diseases, the vast preponderance of them with no approved treatment, and decades‐long diagnostic…”
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Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution by Elsik, Christine G, Tellam, Ross L, Worley, Kim C

“…To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of…”
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International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases by Boycott, Kym M, Lau, Lilian PL, Cutillo, Christine M, Austin, Christopher P

“…Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical…”
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