Titlebook: JIMD Reports, Volume 20; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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A Novel Homozygous , Mutation in Two Italian Siblings and a Review of Literature,anticodon of the cognate mt-tRNA...Our study confirms that MLASA must be considered in patients with congenital sideroblastic anemia and underlines the importance of early diagnosis and supportive therapy in order to prevent severe complications. Clinical severity is variable among .-reported patien

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Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine DeficiencyD 20.4) to 6.3 (SD 1.7) μmol/L within 96 h (. < 0.05). Mean .. following oral supplementation was approximately 9 h. Renal reabsorption of filtered carnitine following oral supplementation was 23%. The level of mean free carnitine excreted in urine correlated (.. = 0.78, . < 0.01) with fC0 in plasma

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human population diversity as well as the dynamics of the recombination process. Differences in the recombination rates are found not only along the genome but also between populations and individuals. When LD has been applied to reconstructing the demographic history of modern human populations, th

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Isidro Vitoria,Elena Martín-Hernández,Luis Peña-Quintana,María Bueno,Pilar Quijada-Fraile,Jaime Dalm importance in the present gene pool of the Paleolithic and Neolithic substrates, both having entered Europe from the Southeast, has been a matter of debate, with an important increase of evidence favoring a strong impact of the Neolithic. Several open questions remain to be addressed, including the

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Josep Oriola,Francisca Moreno,Angel Gutiérrez-Nogués,Sara León,Carmen-María García-Herrero,Olivier Vmitochondrial DNA has revealed sex-specific migrations, particularly in the Colonial period. Since surnames are also patrilineally inherited in many populations, the analysis of Y chromosome variation within surnames has shed light on the dynamics of surnames in populations, but has also contributed

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Barbara Xoana Granata,Marco Baralle,Laura De Conti,Victoria Parera,Maria Victoria Rossettinessed the dissolution of the European Payments Union and the agony of the Bretton Woods Charter. If only Europe could have integrated the monetary regime within the framework of the Treaty of Rome based on Professor Triffin’s proposals to transform the European Payments Union (EPU); if only Europe