Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

por Tjeldhorn, Lena, Amundsen, Silja Svanstrøm, Barøy, Tuva, Rand-Hendriksen, Svend, Geiran, Odd, Frengen, Eirik, Paus, Benedicte
Publicado 2015

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

por Wintjes, Liesbeth T. M., Kava, Maina, van den Brandt, Frans A., van den Brand, Mariël A. M., Lapina, Oksana, Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Ybema‐Antoine, Marion, Tutakhel, Omar A. Z., Greed, Lawrence, Thorburn, David R., Tangeraas, Trine, Balasubramaniam, Shanti, Rodenburg, Richard J. T.
Publicado 2020