Titlebook: JIMD Reports, Volume 31; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inherite

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2192-8304 disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.978-3-662-54118-0978-3-662-54119-7Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency,

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Nina A. Zeltner,Markus A. Landolt,Matthias R. Baumgartner,Sarah Lageder,Julia Quitmann,Rachel Sommer been remarkably difficult to analyze genetically. The focus of this chapter is on the question, “What are the barriers to our understanding of the genetic basis for familiar clustering of chronic diseases?” We will focus on medical genetics rather than the more general problem of genotype-phenotype

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Amy Brown,Louise Crowe,Avihu Boneh,Vicki Andersoniven by drift, with selection playing primarily a constraint role, eliminating strongly deleterious mutations, and only rarely playing a creative role in adaptive change (in relative terms compared to the total number of nucleotides in the genome) (Kimura, 1983). Largely because of the ease of alloz